Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read More Add to Saved list
  • Additional Information
    • Source:
      Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE
    • Publication Information:
      Original Publication: London : BMJ Pub. Group
    • Subject Terms:
      Hormone Replacement Therapy* ; Testosterone*; Brain Diseases/*pathology ; Cafe-au-Lait Spots/*pathology ; Hypopituitarism/*pathology ; Nerve Sheath Neoplasms/*pathology ; Neurofibromatosis 1/*pathology ; Stroke/*pathology; Adult ; Anti-Bacterial Agents/administration & dosage ; Anticonvulsants/administration & dosage ; Antiviral Agents/administration & dosage ; Brain Diseases/etiology ; Cafe-au-Lait Spots/etiology ; Diarrhea/etiology ; Fluid Therapy ; Functional Neuroimaging ; Humans ; Hypopituitarism/etiology ; Levetiracetam ; Magnetic Resonance Imaging ; Male ; Nerve Sheath Neoplasms/complications ; Nerve Sheath Neoplasms/drug therapy ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/drug therapy ; Piracetam/administration & dosage ; Piracetam/analogs & derivatives ; Seizures/etiology ; Stroke/etiology ; Treatment Outcome
    • Abstract:
      A 37-year-old man with a known history of neurofibromatosis 1 (NF1) presented within 2 days of diarrhoeal illness followed by encephalopathy, facial twitching, hypoglycaemia, hypotension, tachycardia and low-grade fever. Examination showed multiple café-au-lait spots and neurofibromas over the trunk, arms and legs and receptive aphasia with right homonymous hemianopia, which resolved. Workup for cardiac, inflammatory and infectious aetiologies was unrevealing. A brain MRI showed gyral swelling with increased T2 fluid-attenuated inversion recovery signal and diffusion restriction in the left cerebral cortex. Neuroendocrine findings suggested panhypopituitarism with centrally derived adrenal insufficiency. Supportive treatment, hormone supplementation, antibiotics, antivirals and levetiracetam yielded clinical improvement. A follow-up brain MRI showed focal left parieto-occipital atrophy with findings of cortical laminar necrosis. In conclusion, we describe a case of NF1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like findings, hitherto unreported manifestations of NF1. Prompt recognition and treatment of these associated conditions can prevent devastating complications.
      (2015 BMJ Publishing Group Ltd.)
    • References:
      Epilepsia. 2013 Oct;54(10):1810-4. (PMID: 24032542)
      N Engl J Med. 2003 Feb 20;348(8):727-34. (PMID: 12594318)
      J Clin Endocrinol Metab. 1997 Feb;82(2):329-34. (PMID: 9024211)
      J Biol Chem. 1994 Jan 21;269(3):1804-14. (PMID: 8294429)
      BMC Neurol. 2012 Nov 21;12 :139. (PMID: 23171315)
      J Pediatr. 2011 Oct;159(4):652-5.e2. (PMID: 21621223)
      Pediatr Neurol. 2000 May;22(5):355-8. (PMID: 10913726)
      Neurofibromatosis. 1989;2(2):116-20. (PMID: 2516455)
      No Shinkei Geka. 2002 Jul;30(7):741-5. (PMID: 12134671)
      Neuroradiology. 2009 Oct;51(10):641-9. (PMID: 19533113)
      J Clin Endocrinol Metab. 2000 Oct;85(10):3631-5. (PMID: 11061514)
      Hum Mol Genet. 2006 Jun 1;15(11):1921-30. (PMID: 16644864)
      Trends Neurosci. 2013 Apr;36(4):237-47. (PMID: 23312374)
      J Med Genet. 2007 Feb;44(2):81-8. (PMID: 17105749)
      J Vasc Surg. 2007 Sep;46(3):475-484. (PMID: 17681709)
      Acta Paediatr Taiwan. 2004 Jan-Feb;45(1):48-51. (PMID: 15264708)
      J Neurosci. 2012 Oct 10;32(41):14087-93. (PMID: 23055477)
      Pediatr Infect Dis J. 1992 Jun;11(6):423-31. (PMID: 1608676)
      Circ Res. 2009 Jul 31;105(3):304-11. (PMID: 19574548)
      Hum Mol Genet. 2008 Aug 1;17(15):2336-44. (PMID: 18442999)
      J Neurosci. 2010 Apr 21;30(16):5579-89. (PMID: 20410111)
      Lancet Neurol. 2014 Aug;13(8):834-43. (PMID: 25030515)
      Hum Mol Genet. 2008 Oct 1;17 (19):2956-66. (PMID: 18614544)
      Circulation. 2014 Mar 18;129(11):1213-24. (PMID: 24370551)
    • Accession Number:
      0 (Anti-Bacterial Agents)
      0 (Anticonvulsants)
      0 (Antiviral Agents)
      3XMK78S47O (Testosterone)
      44YRR34555 (Levetiracetam)
      ZH516LNZ10 (Piracetam)
    • Subject Terms:
      Cafe au lait spots, multiple; Combined Pituitary Hormone Deficiency
    • Publication Date:
      Date Created: 20151105 Date Completed: 20160913 Latest Revision: 20181202
    • Publication Date:
      20231215
    • Accession Number:
      PMC4654154
    • Accession Number:
      10.1136/bcr-2015-210816
    • Accession Number:
      26531733