Moyamoya syndrome has rarely been reported in association with Down syndrome. We report a case of an 11-year-old female child with Down syndrome who presented with hemiparesis and facial palsy. Imaging investigations (magnetic resonance angiography and digital subtraction angiography) revealed the classical Moyamoya pattern. Work-up for prothrombotic and autoimmune disorders was negative. The n...

Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa–trypsin-banding technique. Fifty-five individuals (91%) exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an ...

INTRODUCTION Hypothyroidism has been reported to affect renal function and structure. However, the association of hypothyroidism with distal renal tubular acidosis (dRTA) is rarely reported in children. CASE PRESENTATION We present a 6-year-boy with Down syndrome admitted in our department due to vomiting, weakness, polyuria, polydipsia, irritability and weight loss in the last few weeks. Inv...

Regression (4 to 7 Years) John regressed at about 4 years 1 month. He lost communicative intent and the use of words that he had previously mastered. He showed no interest in toys and play. His eye contact became inconsistent and he was socially unresponsive. He rarely participated in group activities and had diffi culty following instructions. He also started to display repetitive stereotyped ...