Rare Diseases Symptoms Automatic Extraction

[Lumbar radiculopathy presenting neuralgic amyotrophy with gadolinium-enhanced MRI lesions: a case report].

[neuralgic amyotrophy]

A 40-year-old man presented with sudden onset of severe left buttock pain that radiated down the thigh to the leg. On examination, he showed moderate weakness and atrophy in the left quadriceps and tibialis anterior muscles, and absence of a left patellar tendon reflex. Needle electromyography revealed an active denervation pattern in the left quadriceps muscles, suggesting neuralgic amyotrophy. Contrast-enhanced MRI showed abnormal enhancement of the left cauda equina. Steroid pulse therapy relieved pain, and subsequent high-dose intravenous immunoglobulin prevented progression of muscle atrophy and weakness. Neuralgic amyotrophy is characterized by attacks of severe neuropathic pain and subsequent patchy paresis in the upper or lower extremities. Since overall recovery is less favourable than usually assumed, early diagnosis is very important. This case was remarkable in that contrast-enhanced MRI revealed abnormal enhancement and thickening of the cauda equina, which may help in achieving early diagnosis and treatment.

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