Idiopathic Aqueductal Stenosis and Developmental Speech Disorder in Children with Neurofibromatosis von Recklinghausen type 1 –  Two Case Reports

Authors: M. Kalužová 1;  B. Petrák 1;  J. Lisý 2;  M. Vaculík 3;  Š. Bendová 4;  V. Komárek 1
Authors‘ workplace: 2. LF UK a FN v Motole, Praha Klinika dětské neurologie 1;  2. LF UK a FN v Motole, Praha Klinika zobrazovacích metod 2;  2. LF UK a FN v Motole, Praha Oddělení neurochirurgie 3;  2. LF UK a FN v Motole, Praha Ústav biologie a lékařské genetiky 4
Published in: Cesk Slov Neurol N 2012; 75/108(5): 633-636
Category: Case Report


Neurofibromatosis von Recklinghausen type 1 (NF1) is an autosomal dominant neurocutaneous disorder, with incidence of 1 : 2,500–3,000 and a high rate of new mutations. This multisystem disorder is frequently associated with tumours. Hydrocephalus in NF1 patients is either secondary to brain expansion or as a result of idiopathic aqueductal stenosis. Learning disability, behavioural problems and speech development disorders are common in NF1 children. We are presenting two case reports of NF1 children with developmental speech disorder and hydrocephalus consequent to idiopathic aqueductal stenosis. One child developed stenosis during follow up. Coincidence of hydrocephalus due to idiopathic aqueductal stenosis and severe developmental speech disorder has not been described yet.

Key words:
neurofibromatosis von Recklinghausen type 1 – hydrocephalus – aqueductal stenosis – speech development disorder


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Paediatric neurology Neurosurgery Neurology

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