Atiq M, Iqbal S, Ibrahim S, Moazzafar T.
Mitochondrial disorder causing Hypertrophic Cardiomyopathy.
Pak Paed Cardiol J Jan ;3(1-2):20-3.

Five months old male child, QMA, presented to the emergency room of the Aga Khan University Hospital with the complaint of cough and nasal congestion for one week, irritability, reluctance to feed and excessive crying for a few hours. There was no preceding fever, vomiting, seizure or drug intake. He was the first child born of a consanguineous marriage to healthy parents at the end of a full term pregnancy. The mother had felt diminished fetal movements antenatally. At birth the child was found to have bilateral congenital cataracts and was investigated for rubella and galactosemia, which were ruled out. He was operated uneventfully for the cataract during the first month of life and there after admitted for eye examination under anaesthesia and for circumcision, both the latter admissions were without complications. The child was noticed to fatigue easily and sweat during feeding for a few weeks. The physical growth was normal but the motor milestones were delayed. There was a significant family history of neonatal death in two paternal uncles. The child was found to be very irritable, sick looking having a supraventricular tachycardia with a heart rate of 230 bpm, respiratory rate of 46/m and blood pressure being 80/60 mmHg. He was afebrile, poorly perfused and had weak peripheral pulses. The heart sounds were muffled but no murmur was available. Breathing was deep and acidotic and he had moderate hepatomegaly. The eyes showed nystagmus, were aphakic, pupils of irregular shape and sluggishly reactive to light. He had generalized hypotonia and hyporeflexia. Continued ...

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