BACKGROUND: Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with variable clinical presentation, caused by mutations in three different riboflavin transporter genes. CASE: An 11-year-old-boy presented respiratory insufficiency and rapidly progressive muscle weakness. He was the fifth child of consanguineous marriage medical history hearing loss. peri...

background cutis marmorata telangiectatica congenita (cmtc) is a sporadic congenital skin vascular abnormality. significant number of patients has other congenital anomalies. case report we report a case of a preterm male newborn with cutis marmorata pattern presented on the skin of the face, right side of front of the trunk, whole back, glutei and both legs. besides, microretrognatia and asymm...

INTRODUCTION Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. There is a considerable overlap in the phenotype of MMND with Brown-Via...

hypothyroidism is usually associated with delayed pubertal development but in rare occasions precocious puberty may ensue which is seen in cases of prolonged and untreated hypothyroidism. this is also called the van wyk grumbach syndrome. here we present 4 cases of precocious puberty due to hypothyroidism.