7-Month-Old Infant with Cushing's Disease

Cushing's disease in children is not rare but in infants it is quite rare and an important medical condition needing proper line of investigations and management options. Craniopharyngioma as a cause of Cushing's disease is well reported and practical inference of the condition is of clinical importance. Craniopharyngioma generally affects children at 5 - 10 years of age and is rarely seen in infancy. It usually manifests as endocrinological deficits such as short stature, delayed puberty, and obesity. We report the case of a 7 months old infant who presented with obesity and Cushing's disease associated with Craniopharyngioma

neonate with Poland-Mobius syndrome

Poland-Mobius syndrome is a combination of two rare congenital syndromes characterized by congenital facial weakness, loss of abduction of eyes, limb defects, and absence or hypoplasia of the pectoral muscles. A patient with features of both the Mobius syndrome and the Poland syndrome is presented in this case report

case of polyglandular autoimmune syndrome type I with unusual presentation

Eight years old girl presented with mucocutaneous candidiasis, nail dystrophy, twitching left half of face, progressively increasing generalized skin hyperpigmentation and hypopigmented patches over both shins. Her investigations revealed low intact PTH level, low serum cortisol, high ACTH, impaired glucose tolerance test and candidal onycomycosis. She was diagnosed as Polyglandular Autoimmune Syndrome [PGA] type I. She also developed idiopathic generalized epileptiform seizures and Alcaligenes faecalis septicemia not previously reported with PGA type I. The patient responded well to alphacalcidol, hydrocortisone, valproate sodium, topical antifungal and systemic antibiotic

child with roberts syndrome

Roberts syndrome Is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome