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Isolated neurosarcoidosis revealed by diabetes insipidus, visual loss and diplopia in a child patient: a diagnostic

Rached Jomaa1, Mohamed Habib Sfar1, Samia Younes Mhenni1

  • 1Internal Medicine and Endocrinology Service, CHU Taher SFAR, Mahdia, Tunisia.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
|May 3, 2014
PubMed

Insights

Neurosarcoidosis, a rare childhood condition, presented in a 15-year-old with neurological symptoms and muscular dystrophy. Corticosteroids effectively treated the neurological manifestations.

Area of Science:

  • Neurology
  • Pediatrics
  • Immunology

Background:

  • Neurosarcoidosis is a rare granulomatous disease affecting the nervous system.
  • Childhood neurosarcoidosis presents unique diagnostic challenges.
  • This case highlights the overlap between neurological and muscular symptoms.

Purpose of the Study:

  • To describe a rare pediatric case of neurosarcoidosis.
  • To discuss diagnostic difficulties in childhood neurosarcoidosis.
  • To illustrate the clinical presentation and management.

Main Methods:

  • Case report of a 15-year-old male.
  • Clinical examination including neurological and ophthalmological assessments.
  • Diagnostic workup: water deprivation test, hormonal assays, MRI, muscle biopsy, genetic testing.
  • Treatment with corticosteroids.

Main Results:

  • The patient presented with headache, polyuria, polydipsia, cranial nerve palsies, and visual loss.
  • Magnetic resonance imaging revealed extensive lesions in the brain and meninges.
  • Genetic analysis confirmed Limb-girdle muscular dystrophy type 2C.
  • Corticotherapy led to rapid improvement of neurological symptoms.

Conclusions:

  • Neurosarcoidosis can mimic other neurological and muscular disorders in children.
  • Early diagnosis and treatment are crucial for favorable outcomes.
  • This case underscores the importance of considering neurosarcoidosis in pediatric patients with complex neurological presentations.

Keywords:
central diabetes insipidushyperprolactinemialimb-girdle muscular dystrophyneurosarcoidosisvisual loss

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