Rare Diseases Symptoms Automatic Extraction

[Hereditary neuralgic amyotrophy: a paediatric and familial presentation of Parsonage-Turner syndrome].

[neuralgic amyotrophy]

Hereditary neuralgic amyotrophy is a rare disorder, characterized by recurrent attacks of pain in a brachial plexus distribution. We report the case of a 12-year-old boy with several attacks of pain and atrophy of the muscles of the shoulders. The age of onset of this disease is variable, most frequently in the second or third decade. Pediatric onsets, during the first decade are rare. The differences between the hereditary neuralgic amyotrophy and the sporadic Parsonage-Turner syndrome are painful recurrent episodes of weakness and similar familial cases. The analysis of several families has shown that hereditary neuralgic amyotrophy phenotype is heterogeneous and two different clinical courses can be discerned. Recent evidence indicates that HNA is genetically heterogeneous. Pathophysiology of the disease remains unclear, so the treatment is not clearly established.

Diseases presenting "pain" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • coats disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • neuralgic amyotrophy
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • trochlear dysplasia
  • typhoid
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome

This symptom has already been validated