Background: Diabetic treatment satisfaction, medication adherence, and glycemic control are widely recognized as the cornerstones for successful management of diabetes and proxy indicators of quality of care. However, in Nigeria, nothing is known on the role of diabetic treatment satisfaction on medication adherence and blood glucose control. Aim: The study was aimed at determining the role of diabetes treatment satisfaction in medication adherence and glycemic control among ambulatory type 2 diabetic Nigerians in a primary care clinic in Southeast Nigeria. Materials and Methods: This was a descriptive study that was carried out on 120 type 2 diabetic Nigerians who were on treatment for at least 3 months at the primary care clinic of a tertiary hospital in Nigeria. Diabetes treatment satisfaction and medication adherence were assessed in the previous 30 days using pretested, interviewer-administered questionnaire on self-reported satisfaction and adherence to therapy, respectively. Glycemic control was assessed in the previous 1 month. A patient was defined to have goal glycemic control if the fasting blood glucose at the end of the study, visit was between 70 and 130 mg/dL. Results: Diabetic treatment satisfaction, medication adherence, and glycemic control rates were 85.8%, 72.5%, and 61.7%, respectively. Diabetic treatment satisfaction was significantly associated with medication adherence (P = 0.025) and glycemic control (P = 0.04). Conclusion: Diabetic treatment satisfaction was significantly associated with medication adherence and glycemic control. However, treatment satisfaction did not translate marginally to higher medication and glycemic control. Diabetic treatment satisfaction should be integrated into a standard care package for diabetic patients in primary care settings.

Background: Irrespective of the cause of kidney injury, development of renal fibrosis may likely result after prolong insult by the etiologic agent. Inflammatory process associated with an increase in number and activity of mast cell (MC) has been implicated in the development of renal fibrosis. Renal fibrosis occurs through the activation of MC by immunoglobulin E (IgE) binding to high-affinity receptor on its surface. After IgE binding, MC release inflammatory mediators such as histamine, MC protease, cytokines, and chemokines. Aim: This study was designed to investigate the possible role of IgE in the development of renal complication in subjects with Type 2 diabetes. Materials and Methods: A total number of 165 subjects comprising ninety obese diabetic cases (test group) and 75 nondiabetic controls were recruited in this study. The test group was further divided into those with poor glycemic control (n = 45) and those with good glycemic control (n = 45) using glycated hemoglobin (HbA1c). Urine microalbumin was determine using turbidimetry immunoassay, C-reactive protein (CRP) using latex-enhanced immunoturbidimetry assay, IgE, insulin, chymase, and tryptase were estimated using ELISA and HbA1c were estimated by high-performance liquid chromatography. Results: There was statistically significant difference in the mean values of microalbumin, IgE, CRP and HbA1c, chymase, and tryptase in the test group compared with controls (P < 0.01). We found a positive correlation between microalbumin excretion rate and IgE, HbA1c, tryptase, and chymase (P < 0.01). Conclusion: The findings of this study suggest that glycemic control associated inflammatory process involving MC degranulation may contribute to the development of diabetic nephropathy.

Background: The practice of self-medication has been recognized since ages. There has been enough literature available regarding it being there for medical illnesses; however, there is a dearth of information about it for dental causes. Hence, this study was designed to determine the abuse of self-medication for dental illnesses and the reasons for resorting to it. Materials and Methods: This study was conducted in 10 taluks of Belgaum district. Totally, 230 consenting respondents were selected by random sampling from 10 villages and interviewed with the aid of 18-point, closed-ended question-based, semi-structured questionnaire. Results: Odontalgia was the most common reason for which people resorted to self-medication (57.69%). 70% of the respondents did not have the knowledge about the dose, duration, side effects, and interactions of drugs they had used. Paracetamol was the most commonly used drug for self-medication. Conclusion: Analgesics were the most common drugs abused for self-medication. Adequate health education of the populace was found mandatory to make people aware of the use and misuse of drugs, especially analgesics, and regarding the potential adverse effects they can show, especially when used repeatedly, or on a chronic basis. Furthermore, dental health-care services were supposed to be made readily available and affordable so that self-medication among rural patients could be reduced to the barest minimum.

Background and Objective: Tremor, the most common form of abnormal involuntary movement, affects the performance of activities of daily living. Evidence on effective form of physiotherapy techniques which can help manage intentional tremor and improve hand function among cerebellar dysfunction patients in inconclusive. Hence, this study aims to establish the effectiveness of stretching and proprioceptive loading among cerebellar patients with intentional tremors. The objective of this study is to compare the efficacy of stretching and proprioceptive loading among patients with cerebellar intention tremor. Materials and Methods: A total of thirty patients with intention tremor due to cerebellar lesion were recruited for this study. They were randomized into two groups, Group I received stretching exercise and Group II received proprioceptive loading exercise. Pre- and post-test outcome measures were taken at the end of duration of 3 weeks intervention. Outcome measures were Fahn's tremor rating scale and nine hole peg test. Results: Statistical analyses were done by McNemar test, Wilcoxon's signed rank test, and Mann–Whitney test. Post-test scores of both groups were compared and found that Group II treated with proprioceptive loading exercise had higher significant result than the group treated with strengthening exercise program. Conclusion: Proprioceptive loading exercise has demonstrated signifi cant effect on reducing cerebellar tremor and improving muscle coordination in reaching activities.

Background: Pigmentary problems are one of the most frequent causes for dermatologic consultation. For accurate diagnosis, histopathological examination is useful. Pathologic examination often serves as a complementary or a confirmative part of the clinical diagnosis. Objective: To study the pattern of hyperpigmented skin lesions and their histopathological features. Materials and Methods: We prospectively studied histopathological features of hyperpigmented skin lesions in all age groups attending the dermatology department of a teaching hospital over a 2-year period. The skin lesions included inflammatory, genetic, metabolic, and endocrine lesions but excluded neoplastic, infectious, and developmental lesions. Results: Of the 980 skin biopsies, 200 (20.4%) were hyperpigmented lesions. Lesions were most common in the second and third decades. Clinically, itching was the most common presentation. Most common biopsy confirmed hyperpigmented lesions included classical lichen planus and its variants (55%). Histopathologically, most lesions showed lichenoid/interface dermatitis. Most hyperpigmented skin lesions were epidermal (75%) with lichen planus pigmentosus being the only dermal hyperpigmented lesion. Conclusion: Classical lichen planus was the most common hyperpigmented lesion seen in our study. Histopathological examination is useful in accurate diagnosis of hyperpigmented skin lesions, particularly in those with unclear or overlapping clinical features.

Background and Aim: As a part of the Global Polio Eradication Program by the World Health Organization (WHO, 1988), surveillance of acute flaccid paralysis (AFP) was an important public health activity in many countries. With nearing eradication of poliomyelitis, other causes of AFP are gaining importance in both children and adults. Our study was designed to know the clinical characteristics, and differential diagnosis of causes of AFP, including distribution by age, gender, and time. This was a prospective observational study. Materials and Methods: AFP cases were diagnosed on history and physical examination. The underlying etiology was ascertained by appropriate laboratory investigations such as arterial blood gas analysis, urinary pH, electrolytes, thyroid profile, electrophysiological studies, cerebrospinal fluid analysis, and imaging. Results: Between July 2010 and September 2012, 106 cases of AFP were enrolled. The mean age in males was 40.2 years (standard deviation [SD] 17.1) and the mean age in females was 33.4 years (SD 14.1). Males constituted 57.5% (61/106) and females constituted 42.5% (45/106). Out of 106 patients, 58 (54.7%) were suffering from Guillain–Barré syndrome (GBS), 15 (14.2%) from hypokalemic paralysis, 8 (7.5%) from myasthenia gravis, 8 (7.5%) from thiamine deficiency, 5 (4.7%) from transverse myelitis, and 2 (1.9%) from cord compression. Other diagnoses include acute motor axonal neuropathy (AMAN) 3 (2.8%), acute disseminated encephalomyelitis 2 (1.9%), meningoencephalitis 2 (1.9%), diabetic polyneuropathy 2 (1.9%), and chemotherapy-induced neuropathy 1 (0.9%). Most cases 42/106 (39.6%) were admitted during spring season. Conclusion: GBS was the most common cause of AFP in all age groups. Most AFP cases occurred during spring season. No case of polio myelitis was found.

Background: Ectopic pregnancy can present as an acute life-threatening emergency when it ruptures and accounts for about 10% of all maternal mortalities. The fallopian tube is the most common site for ectopic pregnancy (90–95%). With an increasing incidence of ectopic pregnancy worldwide, a histopathological study of the resected fallopian tubes becomes important to look for predisposing/associated findings such as chronic salpingitis, salpingitis isthmica nodosa (SIN), and tuberculosis. Aim: The aim was to study the histomorphology of the fallopian tubes with ectopic gestation and note the presence of predisposing factors such as chronic salpingitis, SIN, and granulomas in association with ectopic. Materials and Methods: This was a retrospective study. The study was conducted on fallopian tube specimens with a clinical diagnosis of ectopic pregnancy. Sections from the fallopian tubes were studied for the presence of chorionic villi confirming the tubal gestation. The fallopian tubal wall was screened for features of chronic salpingitis, SIN, granulomas, Walthard cell rests, and any other related pathological findings. Results: Ninety cases were included in the study. The age of the patients ranged from 18 to 40 years with a peak in the third decade (71.11%). Chronic salpingitis was seen in 20 cases (22.22%), SIN in 11 cases (12.22%), and tuberculous salpingitis in one case. Conclusion: Histopathological examination of the resected fallopian tubal ectopics can provide an insight into the etiopathogenesis of ectopic pregnancy. In some cases, it can also aid in the treatment modality to prevent a recurrent ectopic.

Background: Osteoporosis is a worldwide problem demanding attention in the modern world. In the last four decades, numerous research teams have reported oral radiographic findings associated with osteoporosis. The preponderance of the evidence shows that the jaws of subjects with osteoporosis show reduced bone mass and altered morphology. A number of mandibular cortical indices (MCIs) have also been developed to allow quantification of mandibular bone mass and identification of osteoporosis. Aims and Objectives: The aim of the present study was to measure various radiomorphometric indices and/or, mandibular cortical indices (MCIs) on digital panoramic radiographs (Orthopantomographs [OPGs]) of postmenopausal females; to assess the bone mineral density (BMD) of postmenopausal females using dual energy X-ray absorptiometry (DEXA); and to compare the radiomorphometric indices on digital panoramic radiographs with BMD values and thereby assessing the efficacy of digital panoramic radiographs in detecting mandibular osteoporotic changes so as to screen osteoporosis. Materials and Methods: One hundred postmenopausal females were randomly selected from the outpatient department. All the patients were explained about the need for the study. Informed consent was taken, and a detailed case history was obtained. After subjecting the patients to digital panoramic radiography, the patients were taken for BMD evaluation using DEXA scans. Statistical Analysis: The data obtained were subjected to statistical analysis using SPSS version 14. P < 0.05 was considered statistically significant. ANOVA with post hoc Tukey's test, Chi-square test, Pearson correlation coefficient, and Spearman correlation coefficient were used for statistical analysis. Results: Klemetti index showed that a patient with C3 cortical appearance had a low BMD. Among the quantitative indices, mental index, panoramic mandibular index, antegonial index, and gonial index, showed significantly lower values among the osteoporotic group. Conclusion: Digital panoramic radiographs (OPGs) have a significant role in the initial screening of elderly females for early osteoporotic changes.

In Nepal, a developing country in South Asia, hospital pharmacies in teaching hospitals faces a number of challenges. Design and location of the pharmacy is inadequate, the pharmacy is often rented out to private parties, there may be a lack of separation of outpatient and inpatient pharmacy services, medicines are not selected based on objective criteria, too many brands are stocked, pharmaceutical care services are not provided, and pharmaceutical promotion is not regulated within the hospital premises. Furthermore, there is often a lack of pharmacy management software to help dispensing, continuing pharmacy education is not provided, medicines are not compounded or packaged in house, there are problems with medicines availability and medicine quality, and drug utilization studies are not linked with initiatives to promote the rational use of medicines. In this article, the authors examine these challenges and put forward possible solutions.

Pleural effusion as a consequence of acute pancreatitis is transient, usually left-sided; straw colored and accounts for 1% of all the cases. Rarely, it may be right-sided and hemorrhagic causing difficulty in establishing the diagnosis, especially if the chest symptoms are disproportionately more than the abdominal symptoms. We present a case of a young alcoholic male patient with a history of inadequately treated tuberculosis in the past, who presented with massive right pleural effusion, ascites, and right hydrocele and was overtly symptomatic for 1 week before hospital admission. Evaluation of pleural fluid revealed hemorrhagic, lymphocyte predominant exudate with low Adenosine Deaminase (ADA) and high amylase level. Ascitic fluid too showed similar characteristics. His serum amylase level was also elevated which prompted us to make a clinical diagnosis of pancreatic pleural effusion with ascites. Further radiological investigations confirmed the diagnosis of acute pancreatitis. Early pleural fluid amylase testing will certainly avoid a delay in the timely diagnosis.

The majority of renal angiomyolipoma (AML) is sporadic, and occasionally it occurs in the background of tuberous sclerosis complex. Epithelioid AML (EAML) is an uncommon variant, with uncertain behavior. We present a case of tuberous sclerosis with right large renal tumor. The tumor revealed epithelioid cells accompanied by thick wall vessels and muscular bundles in all the sections; devoid of lipocytes. Immunohistochemistry confirmed the diagnosis of epithelioid perivascular epithelioid cell tumor. Pure EAML is a rare tumor with potential malignancy. Accurate diagnosis, especially differentiation it from renal cell carcinoma, is very important for proper management of the patient.

Sinonasal undifferentiated carcinoma (SNUC) of the paranasal sinuses represents a very rare and extremely aggressive malignancy posing a diagnostic and therapeutic dilemma for treating physicians due to its location, vast array of differential diagnosis without any definite therapeutic guideline. With only a few cases described in the literature, we hereby report a 34-year-old male with progressive, painless swelling of the left eye and diminution of vision. Radiographic imaging showed a mass lesion in the left anterior ethmoid sinus. Biopsy of nasal mass seen on nasal endoscopy revealed a poorly differentiated malignancy. He underwent craniotomy and excision of tumor. Postoperative histopathology report showed SNUC staining positive for epithelial membrane antigen, neuron-specific enolase, and cytokeratin on immunohistochemistry. He received postoperative radiotherapy (RT) and chemotherapy but developed extensive skeletal metastasis, for which he was treated with palliative RT to which he responded well. At present, he was on close follow-up with a Karnofsky performance status of 60%.

Hypereosinophilia is a frequent symptom that may occur in course of many underlying diseases. Hypereosinophilic syndrome (HES) is characterized by following criteria-Eosinophil count greater than 1500 μl persisting longer than 6 months and single or multiple organ system dysfunction attributable to cytotoxic injury by eosinophils without an identifiable etiology to explain eosinophilia. We present a case of HES with peripheral eosinophilia showing eosinophilic infiltration in lymph node. In an eleven year old boy who presented to Respiratory medicine OPD with intermittent fever and papular skin rashes.

Adie's tonic pupil, though well known in literature is a rarity in practice. Few case reports have mentioned the occurrence of Adie's pupil during a migraine attack. We report a young female with a history of migraine without aura presenting with asymmetric pupils during migraine attack. Her right pupil was dilated, unresponsive to light with poor response to near reflex. She also had a bilateral loss of ankle jerks. In 0.125% pilocarpine test, the affected pupil responded significantly, and Holmes Adie's syndrome was diagnosed. The patient remained asymptomatic after adjustment of refraction of the right eye for the near vision. It is usually a benign condition. Early clinical detection of such condition is necessary to prevent unnecessary and costly investigations as well to reassure the patient.

The disorders of sex development (DSD) are uncommon and have wide phenotypic variation. Due to this, they often cannot be classified properly and go unreported. This case is an 18-month-old child with penoscrotal hypospadias with bilateral undescended testes. The karyotyping was 46 XY. Serum testosterone and progesterone were normal. Histopathological examination showed the right gonad with few testicular tubules containing sertoli cells and fibro-collagenization of the stroma. The left Mullerian structures showed epididymis with fallopian tube, with absent testis. Persistent Mullerian duct with hypospadias is a rare anomaly, not classifiable under any of the 46 XY DSD. The possible genesis of this unique case is due to markedly reduced sertoli cells producing low levels of anti-Mullerian hormone which led to the failure of regression of Mullerian duct structures. The associated hypospadias is probably because of impaired action of testosterone possibly due to the deficiency of 5β reductase enzyme.

Leiomyoma is a benign tumor of smooth muscle. Leiomyoma originating from the scrotum is rare. We report here a case of 50-year-old male who presented with a lump in the left side of scrotum. Clinically, it was diagnosed as sebaceous cyst and was excised. The histopathology showed findings consistent with leiomyoma. There was no cytological atypia. The final diagnosis of solitary scrotal leiomyoma was given.

Oleogranulomas are rare in rectum and usually present as pseudotumor as a result of foreign body reaction secondary to injection into wall of any oily substance, most commonly mineral oil for treatment of hemorrhoids or oil enemas for constipation. Their occurrence along with malignant melanomas which are also uncommon tumors in the rectum have not been reported in the literature so far. We report one such rare occurrence in a 55-year-old female who presented with alteration of bowel habits and passage of blood in the stool. Clinical and radiological examination suggested a tumor in the rectum. The biopsy report was suggestive of malignant melanoma. The patient underwent abdominoperineal resection. Gross examination of resected specimen revealed blackish ulceroproliferative growth in the lower part of the rectum. Histopathological examination revealed characteristic features of malignant melanoma along with oleogranulomas comprising of multinucleated foreign body giant cells and epithelioid cell granulomas surrounding large clear spaces giving “swiss cheese appearance.”

The purpose of this study was to update, discuss the accumulated knowledge regarding clinical evaluation and physical therapy rehabilitation for scapular dyskinesis. The aim of this study was to educate health professionals and athlete regarding scapular dyskinesis to make them aware of its consequences in affecting shoulder kinematics. Normal movement of scapula should not be compromised. Its deficiency results in restriction in shoulder joint functions. Mr. X, 26-year-old volleyball player with shoulder pain, was clinically assessed with scapular dyskinesis and rehabilitated through conservative physical therapy at three levels for 8 weeks. A single case study design was used to assess and rehabilitate the volleyball player with scapular dyskinesis. Scapular dyskinesis alters normal position and kinematics of scapula. Hence, it needs early diagnosis with appropriate clinical examination to rehabilitate. Physiotherapy plays a major role in it.

Cervical cerclage has been used in the management of cervical insufficiency for several decades, yet the indications are uncertain and benefits questionable. It remains a controversial intervention. We present a case of cervical incompetence in a 33-year-old Gravida 5 Para 0+4 woman who had an emergency cervical cerclage at 18 weeks gestation and subsequently delivered of a live male infant at 29 weeks gestation following preterm premature rupture of fetal membrane.

Pompe's disease (glycogen storage disease Type 2, acid maltase deficiency) is characterized by a progressive myopathy due to accumulation of glycogen in skeletal muscles in addition to various tissues. Late onset Pompe's disease is characterized by slowly progressive proximal myopathy with respiratory muscle involvement. We present the case of a 16-year-old female presenting with proximal muscle weakness with calf hypertrophy diagnosed to be late onset Pompe's disease. This case highlights the need to consider Pompe's disease in the differential diagnosis of calf muscle hypertrophy, in patients with proximal myopathy even without overt respiratory muscle involvement.

The unilocular radiolucencies remain the topic of much interest for clinicians for decades. These conditions cannot be diagnosed by clinical appearance alone, but it is based on clinical and radiological features. In spite of the giant strides taken in the field of imaging, there still remains the possibility that an inexperienced clinician may often misdiagnose this entity. It is thus very important for the clinician to have a sound knowledge of various unilocular radiolucencies. Adequate use of diagnostic aids and careful observation will certainly help to arrive at a proper diagnosis and render quality treatment in such cases. Here, we present a case of a rare unilocular lesion in the left anterior maxilla with three impacted teeth.

Atrial fibrillation (AF) is the most common observed arrhythmia in clinical practice. In the literature, AF events associated with drug induction are available. Cetirizine is a second-generation histamine antagonist used in the treatment of allergies, angioedema, and urticaria. We wish to present an atypical case who took cetirizine medication for relieving symptoms of upper tract respiratory system infection, experienced rapid ventricular response AF and treated successfully. To best of our knowledge, this is the first case of cetirizine-induced AF.

Von Meyenburg complex (VMC) (biliary hamartoma) is found incidentally in 0.6%–2.8% of adult autopsies or during histological examination and is rarely found in children. They are small, multiple and occur anywhere in the liver. VMC typically causes no symptoms or disturbances in liver functions and in most instances are diagnosed incidentally. They may represent a diagnostic dilemma when liver metastasis is suspected. Given the diagnostic uncertainty over imaging in VMC, liver biopsy is often recommended for a definitive diagnosis. The malignant potential of this finding which is currently considered and frequently ignored raises the necessity of follow-up.

Mesenteric panniculitis is a rare, benign, and chronic fibrosing inflammatory disease that affects the adipose tissue of the mesentery of the small intestine and colon. Mesenteric panniculitis of the sigmoid colon is an extremely rare occurrence in surgical practice. The specific etiology of the disease is unknown. The diagnosis is suggested by computed tomography (CT) and is usually confirmed by surgical biopsies. Treatment is empirical and based on a few selected drugs. Surgical resection is sometimes attempted for definitive therapy although the surgical approach is often limited. We are reporting two cases of mesenteric panniculitis of the sigmoid colon, one of which was associated with carcinoma.

There are museums in every branches of science and technologies as well as in many other fields of fine arts, sculpture, etc., serving the societies in acquisition of deeper knowledge. However, no serious attempts have been made to establish such museums in dental sciences. The aim of this article is to create awareness of the importance of the museums in the dental institutions and to provide resource for research in different specialties. The objective is to expose our unique experiences in this area which helped the students to improve their knowledge of the dental sciences and the public dental health awareness. The methods adopted were collection of large numbers of samples, fabrications of models, charts, etc., for teaching curriculum and public education and presenting them with suitable classifications. Results of this vast effort and pains taken are very much appreciated and encouraged by the visiting dentists, dignitaries, school children, and the public. Museums of dental materials should be inseparable parts of the dental teaching institutions and are very essential for the dental students and educating the societies on dental health awareness.

A low level of public investments in preventive health facilities and medical care facilities and health professionals has given rise to poor health status for an average Indian. Insufficient government funding for health care, inadequate and ineffective health financing mechanisms, poor delivery of health care, especially in public facilities, and excessive reliance on unregulated high-cost private providers have contributed to the poor accomplishment of Millennium Development Goals, especially in the informal sector. Sustainable Development Goals (SDGs) consider health to be one of the important objectives to be achieved by all the nations in the world. This paper reappraises the current status, unmet needs, challenges, and the way forward to implement and achieve universal health coverage (UHC) in India by thrusting the focus on three elements (pillars) of universal access to health services. Despite seven decades of independence, India does still face the formidable challenge of providing health services to its population at an affordable cost. One of the major obstacles in reaching universal coverage and universal health entitlement of every Indian citizen has been the absence of effective health financing mechanism that promotes affordable access to weaker and vulnerable sections of the society. In this respect, health insurance certainly does have the potential to expedite the process of UHC if various stakeholders work in cohesion under the government stewardship. In rural India, the health infrastructure and workforce are inadequate to serve the unserved and underserved population. Hence, the government should invest in public health facilities while promoting pan-India health insurance to ensure and guarantee easy access and affordability for its citizens. The way forward should not only be centered on financial protection, but also to have renewed emphasis on restructuring the health-care system, ensuring the adequate availability of infrastructure, skilled workforce, and access to affordable drugs and technologies. Integration and strengthening of different health financing and delivery mechanisms would undoubtedly enable us to achieve the Alma-Ata declaration of “health for all” and the ambitious target United Nations SDGs of “UHC” by 2025 in India's “Bharat” and “modern” India.

The intellectual revolution led by ancient Greek philosophers and physicians witnessed the extraordinary evolution of the birth of neuroscience from speculations of cardiocentrism (Aristotelism) and encephalocentrism (Galenism). Later further development of neurosciences was hallmarked by the development of anatomic theories of phrenology by the German physician Franz Joseph Gall in 1796. Although phrenology was a pseudoscience, it was Gall who laid the foundations for the subsequent biologically based doctrine of brain behavior localization. The amazing story of Phineas Gage is a classic case in the nineteenth-century neurosciences literature that played a pivotal role in the concept of cerebral localizationism, a theory that moved beyond phrenology. This iconic case marked the historical beginnings of brain origins of human behavior and elucidated a link between brain trauma, prefrontal brain damage and personality change.

Tuberculosis is an ancient disease which has been extensively studied by various scientists. Many have the tuberculous lesions named after them for which they will be remembered forever. This article gives details of the contributions of these scientists who we should never forget.

The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic awareness of chondrodystrophic myotonia or Schwartz–Jampel syndrome, a very rare genetic disorder. This autosomal recessive disorder due to mutations in the gene Perlecan leads to abnormal cartilage development and anomalous neuromuscular activity.

Primary failure of eruption (PFE) is a partially understood oral condition associated with tooth eruption failure. Failure of eruption may affect one or a number of teeth, in either the primary or the permanent dentition, and depending on the underlying etiology, it can be partial or complete absence of teeth in oral cavity. For proper diagnosis, the differential diagnosis of PFE should always begin with the exclusion of potential systemic and local factors which can affect the eruption of teeth.