No abstract

Hepatic hemangioma is a commonly encountered benign vascular tumour of liver during infancy. Acquired hypothyroidism is one of the rare manifestation of this entity. We report a 4-month-old infant born to a diabetic mother who developed acquired hypothyroidism not responding to treatment due to multiple hepatic hemangiomas. The mechanism behind is increased type 3 deiodinase activity due to hemangiomas of liver, which catalyses conversion of T4 to rT3 and T3 to T2. Hemangiomas were successfully treated with propranolol which lead to its regression and ultimately resulted in euthyroidism. Hence, screening for hepatic hemangioma should be done in all cases of congenital hypothyroidism not responding to thyroxine treatment. We also propose early initiation of treatment of hemangiomas with propranolol as the first line therapy to prevent growth retardation and intellectual loss.

No abstract

X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature. In this study, we present the case of XLAG syndrome who presented in neonatal period with refractory seizures and ambiguous genitalia. MRI brain showed abnormal gyral pattern with smooth broad gyri suggestive of Lissencephaly and agenesis of corpus callosum. Our index case survived for only 25 days. Early suspicion, genetic counselling, and prenatal radiological work-up of such cases will reduce further burden on the family.