[Splenic hamartoma, severe thrombocytopenia, and macrocrania in a neonate: A case study]. / Hamartome splénique, thrombopénie sévère et macrocrânie chez un nouveau-né.

We report a case of splenic hamartoma associated with neonatal macrocrania diagnosed in a newborn. The diagnosis was made in the first 2 days of life upon the existence of an abdominal mass in the newborn infant. Abdominal ultrasound and abdominal computed tomography supported the diagnosis, but the histological study was inconclusive. The indication for surgery is still controversial. Through a literature review, the clinical, histological, and radiological aspects are discussed. The combination of neonatal hamartoma, thrombocytopenia, and macrocrania has never been reported.

[Spasmus nutans and vermian agenesis: case report]. / Spasmus nutans et agénésie vermienne : à propos d'un cas.

UNLABELLED: Spasmus nutans is a syndrome occurring in infants comprising a symptomatic triad: torticollis, head nodding and nystagmus. Neuropediatric and ophthalmologic investigation are normal. No case of association with non-evolutive encephalopathy has been reported to date. We report on a case of spasmus nutans-associated agenesis of the median vermian cerebellum. OBSERVATION: A 3-month-old female infant was hospitalized for head nodding lasting 1 week and nystagmus of the left eye with no other signs. A lung infection had preceded the clinical signs. The ophthalmologic examination and electroencephalography (EEG) were normal. The cerebral MRI showed an objective partial agenesis of the median vermian cerebellum. The diagnosis of spasmus nutans-associated brain malformation was retained. CONCLUSION: The discovery of non-evolutive encephalopathy was associated with spasmus nutans. A genetic study is required.