Medicina Fluminensis, Vol. 61 No. 3, 2025.
Studija slučaja
https://doi.org/10.21860/medflum2025_332195
Hereditary Neuropathy with Liability to Pressure Palsies in Adult Croatian Patients: A Report of Three Cases
Denis Čerimagić
orcid.org/0000-0003-0743-2618
; Sveučilište u Dubrovniku, Odjel za stručne studije, Dubrovnik, Hrvatska
*
Marija Mašanović
; Zavod za javno zdravstvo Dubrovačko-neretvanske županije, Odjel za socijalnu medicinu, Dubrovnik, Hrvatska
* Dopisni autor.
Sažetak
Aim: To present the main features of the medical history, clinical picture, nerve conductive studies, and molecular-genetic diagnosis in three patients with hereditary neuropathy with liability to pressure palsies. This rare disease is inherited in an autosomal dominant manner, and clinically it is presented by recurrent and usually transient entrapment syndromes of different localizations. Nerve conduction studies are the gold standard in the diagnosis of this disease, and clinical suspicion is confirmed by evidence of a 1.5 Mb deletion (more often) on chromosome 17 (17p11.2) or a point mutation (less frequently), which includes the gene for peripheral myelin protein 22. Case reports: In the paper, we present 3 patients, 2 men and 1 woman, in whom the disease was diagnosed at 85, 63, and 43. Except for the last patient, the disease was diagnosed late, which points to the fact that hereditary neuropathy with a liability to pressure palsies is rarely considered a possible cause of recurrent entrapment syndromes. The clinical picture is heterogeneous; in the cases of patients 1 and 3, the clinical presentation is typical (cubital tunnel syndrome and peroneal tunnel syndrome), while in patient 2, it is atypical (acroparesthesia), where it is a matter of superimposing the Miller Fisher variant of Guillain-Barré syndrome on vulnerable peripheral nerves previously damaged by this hereditary neuropathy. Conclusions: It is important to rule out hereditary neuropathy with a liability to pressure palsies in the differential diagnosis in patients with recurrent entrapment syndromes of different localizations, especially in those with a positive family history and demyelinating polyneuropathy. Many patients with this disease are unrecognized; therefore, it is particularly important to familiarize physicians of various specialties with the characteristics of this hereditary disease and the possibilities of diagnosis, treatment, and genetic counselling.
Ključne riječi
molecular biology; nerve compression syndromes; tomaculous neuropathy
Hrčak ID:
332195
URI
Datum izdavanja:
1.9.2025.
Posjeta: 387 *