Trisomy 9p [Neurosurgery Wiki]

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====== Trisomy 9p ======
 

[[Hydrocephalus]] caused by excessive [[liquor]] production due to [[choroid plexus hyperplasia]] is a rare condition that may necessitate unusual treatment paradigms. It can be seen in [[trisomy 9p]] where coexisting [[congenital heart disease]] additionally may complicate the therapeutic approach.

====== Case report ======

At 20 months of age, a [[Caucasian]] girl with [[trisomy]] 9 and a [[family history]] of an older brother and [[twin]] sister having the same syndrome displayed signs of [[congenital hydrocephalus]] due to increasing [[head circumference]]. [[Magnetic resonance imaging]] revealed enlarged [[lateral ventricle]]s and a prominent [[choroid plexus]] and the girl was treated with a [[ventriculoperitoneal shunt]], which 2 days later had to be replaced with a [[ventriculoatrial shunt]] as [[cerebrospinal fluid production]] greatly exceeded the ability of the patient's abdominal absorptive capability. At 16 years of age, the patient was diagnosed with [[cardiomyopathy]] and diminished ejection fraction. Some months later, she was admitted to the neurosurgical ward showing signs of [[shunt dysfunction]] due to a [[colloid cyst]] in the [[third ventricle]]. Cystic drainage through endoscopic puncture only helped temporarily. Revision of the [[shunt]] [[system]] showed occlusion of the [[ventricular drainage]], and [[replacement]] was merely temporary alleviating. [[Intracranial pressure]] was significantly increased at around 30 mmHg, prompting externalization of the drain, and measurements revealed high [[cerebrospinal fluid production]] of 60-100 ml liquor per hour. Thus, endoscopic [[choroid plexus coagulation]] was performed bilaterally leading to an immediate decrease of daily [[cerebrospinal fluid]] formation to 20-30 ml liquor per hour, and these values were stabilized by pharmaceutical treatment with [[acetazolamide]] 100 mg/kg/day and [[furosemide]] 1 mg/kg/day. Subsequently, a [[ventriculoperitoneal shunt]] was placed. Follow-up after 1 and 2 months displayed no signs of [[hydrocephalus]] or [[ascites]].

High [[cerebrospinal fluid volume]] load and coexisting [[heart disease]] in children with [[trisomy 9p]] may call for endoscopic [[choroid plexus coagulation]] and pharmacological therapy to diminish the daily [[cerebrospinal fluid production]] to volumes that allow proper [[ventriculoperitoneal shunt]]ing
((Henningsen MB, Gulisano HA, Bjarkam CR. [[Congenital hydrocephalus]] in a [[trisomy 9p]] gained [[child]]: a [[case report]]. J Med Case Rep. 2022 May 27;16(1):206. doi: 10.1186/s13256-022-03424-5. PMID: 35619116.)).