Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

M Joubert, JJ Eisenring, J Preston, F Andermann - Neurology, 1969 - AAN Enterprises
M Joubert, JJ Eisenring, J Preston, F Andermann
Neurology, 1969AAN Enterprises
SOME TWO YEARS AGO we investigated a child with profound psychomotor retardation
who had had an occipital meningoencephalocele removed at birth. Contrast studies were
carried out which showed a large midline defect in the posterior fossa and absence of the
vermis. At the time we disregarded the nurses' comments about the child's abnormal
breathing. A year later, Dr. PP Demers referred this patient's baby brother to us because he
was concerned about his abnormal breathing and xetarded development. It was then found …
SOME TWO YEARS AGO we investigated a child with profound psychomotor retardation who had had an occipital meningoencephalocele removed at birth. Contrast studies were carried out which showed a large midline defect in the posterior fossa and absence of the vermis. At the time we disregarded the nurses’ comments about the child’s abnormal breathing. A year later, Dr. PP Demers referred this patient’s baby brother to us because he was concerned about his abnormal breathing and xetarded development. It was then found that a third and older child in this family was Tetarded, ataxic, and breathing abnormally. Finally we were able to trace yet another sibling who had died in fancy and who, at autopsy, proved to have agenesis of the vermis. This. diagnosis was then confirmed in the two affected living children by contrast studies. From this investigation there emerged a familial syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and mental retardation associated with a common malformation in the four affected siblings, agenesis of the vermis. This syndrome has not previously been described in the literature. The affected children will be presented in the order in which the abnormality was identified, which happens to be in reverse to the birth order (Fig. 1).
American Academy of Neurology