Thread by @neurogenicpoet

2 brothers in their 30’s presented to us with progressive Cerebellar ataxia. On examination, there is slightly restricted vertical gaze.

Thoughts ?

#MedTwiter #NeuroTwitter #Neurology

One of the typical features of Niemann-Pick C disease is SUPRANUCLEAR VERTICAL GAZE PALSY

Ataxia, Dystonia Psychomotor Regression are common

GELASTIC CATAPLEXY is another common feature

The disease follows an Autosomal Recessive inheritance and unlike A/B, C can present in older ages with neurological features, without hepatosplenomegaly

Think of it in a younger patient with ataxia , Dystonia with these eye movement abnormalities, or as a differential to PSP in a younger individual

Screening is done by Oxysterols/Chitriosidase, later to be confirmed by genetic studies. Skin fibroblasts bone marrow or liver may show “sea blue histiocytes”

Neimann Pick is due to sphingomyelinase deficiency. Type C is associated with defects in NPC1 or 2

Miglustat might be useful to these patients !

Our patient has slightly low sphingomyelinase levels, that could be due to NPC. Genetic studies awaited

This might not turn out to be NPC. The point I want to make is, think beyond FA and SCA’s in Cerebellar ataxia. NPC is kind of treatable (likely to become treatable soon, hopefully!)
Look for VERTICAL GAZE in all these patients!! See how important it is in this!!

These are diseases that require prior knowledge and a good neurological exam. MRI etc will NOT give you the diagnosis.

Take home messages:
-Look for Upgaze restriction, think of NPC
- What was “degenerative” is on the cusp of new therapy. We need to be prepared with the Dx!