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Hereditary neuropathy with liability to pressure palsies in childhood
A A Gabreëls-Festen1, F J Gabreëls, E M Joosten
1Institute of Neurology, University Hospital Nijmegen, The Netherlands.
Insights
Hereditary neuropathy with liability to pressure palsies (HNPP) can present atypically in children, without the characteristic pressure palsies. Early diagnosis is crucial, as polyneuropathy is evident even without specific palsy symptoms.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder.
- HNPP is typically characterized by recurrent, transient focal neurological deficits, often triggered by minor pressure or repetitive use.
Observation:
- This study presents four children, the index cases of families diagnosed with HNPP.
- Only one child presented with an acute peroneal palsy; the other three had different initial symptoms.
- Polyneuropathy was diagnosed in all four children, as well as in affected parents and siblings.
Findings:
- On detailed inquiry, transient palsies were reported in one child and several family members prior to diagnosis.
- Sural nerve morphological studies revealed large tomacula, indicative of HNPP.
- Pathological findings included segmental demyelination, remyelination, and axonal degeneration.
Implications:
- HNPP may present atypically in pediatric cases, without the hallmark pressure palsies.
- Recognizing these varied presentations is vital for timely diagnosis and genetic counseling.
- This highlights the importance of a comprehensive neurological evaluation in suspected cases.
Abstract:
Four children, index cases of families in which autosomal dominant neuropathy with liability to pressure palsies (HNPP) was diagnosed, are presented. Only one child was admitted for evaluation of an acute peroneal palsy, three presented with other symptoms. Polyneuropathy was diagnosed in all four children, in one of their parents and in some sibs. On inquiry, one child and several members of the four families had experienced transient palsies before. Morphological studies of the sural nerves showed frequently large tomacula and a neuropathic process of segmental de- and remyelination, and axonal degeneration. Attention is drawn to the atypical presentation without pressure palsies of HNPP.