Rare Diseases Symptoms Automatic Extraction

Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy.

[neonatal adrenoleukodystrophy]

A newborn baby girl developed seizures right after birth. On the fourth day, the baby was examined using diffusion sequence magnetic resonance imaging (MRI) and diagnosed to have neonatal adrenoleukodystrophy. Laboratory findings confirmed the diagnosis. This is the first case of neonatal adrenoleukodystrophy (NALD) where diffusion MRI sequence helped in the diagnosis. We find association of NALD with seizures at birth is an extremely rare occurrence, and so far, only one case has been mentioned in the literature.

Diseases presenting "first case" symptom

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  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • omenn syndrome
  • papillon-lefèvre syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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