Niemann-Pick disease history and symptoms: Difference between revisions
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==Symptoms== | ==Symptoms== | ||
===Niemann-Pick Disease Type C=== | |||
====Visceral symptoms==== | |||
Isolated unexplained [[splenomegaly]] with or without [[hepatomegaly]], is observed in the majority of patients with NP-C and is the strongest visceral indicator of the disease. When present in combination with other neurological and/or psychiatric symptoms, including Vertical supranuclear gaze palsy, ataxia and schizophrenia-like symptoms, isolated splenomegaly becomes highly suggestive of NP-C. Isolated unexplained splenomegaly should always lead to the inclusion of NP-C in the differential diagnosis, and hence trigger a search for other symptoms of the disease. Splenomegaly in NP-C is ranging from slight to tremendous enlargement, even in young children. Importantly, the degree of splenomegaly does not correlate with neurological manifestations, disease severity or illness stage. Absence of splenomegaly should not lead to the exclusion of NP-C. In young patients, splenomegaly can be assessed by turning the patient on the right side in order to have the spleen falling downwards. In this position, the spleen should not be palpable under normal conditions. A palpable spleen indicates that its size is increased by at least two-fold. In adolescent and adult patients, mild splenomegaly may only be detected by abdominal imaging such as ultrasound. | |||
==References== | ==References== | ||
Revision as of 16:12, 23 October 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History
Symptoms
Niemann-Pick Disease Type C
Visceral symptoms
Isolated unexplained splenomegaly with or without hepatomegaly, is observed in the majority of patients with NP-C and is the strongest visceral indicator of the disease. When present in combination with other neurological and/or psychiatric symptoms, including Vertical supranuclear gaze palsy, ataxia and schizophrenia-like symptoms, isolated splenomegaly becomes highly suggestive of NP-C. Isolated unexplained splenomegaly should always lead to the inclusion of NP-C in the differential diagnosis, and hence trigger a search for other symptoms of the disease. Splenomegaly in NP-C is ranging from slight to tremendous enlargement, even in young children. Importantly, the degree of splenomegaly does not correlate with neurological manifestations, disease severity or illness stage. Absence of splenomegaly should not lead to the exclusion of NP-C. In young patients, splenomegaly can be assessed by turning the patient on the right side in order to have the spleen falling downwards. In this position, the spleen should not be palpable under normal conditions. A palpable spleen indicates that its size is increased by at least two-fold. In adolescent and adult patients, mild splenomegaly may only be detected by abdominal imaging such as ultrasound.