Hypothermia, Hypotension, Hypersomnia, and Obesity Associated With Hypothalamic Lesions in a Patient Positive for the Anti–aquaporin 4 Antibody A Case Report and Literature Review Hypothalamic Lesions and AQP4 Antibody

Suzuki K, Nakamura T, Hashimoto K, et al. — Mon, 01 Oct 2012 00:00:00 GMT

Objective

To describe a patient positive for the anti–aquaporin 4 antibody with hypothalamic lesions showing hypothermia, hypotension, hypersomnia, and obesity.

Design

Case report.

Setting

University hospital.

Patient

We describe a 21-year-old woman who was positive for anti–aquaporin 4 antibody and presented with hypothermia, hypotension, and hypersomnia owing to bilateral hypothalamic lesions as the only abnormal clinical finding.

Results

Immediate steroid administration resulted in significant improvement of the patient's vital signs and imaging findings; however, her cognitive impairment and sleepiness persisted, and she subsequently developed obesity. Decreased cerebrospinal fluid orexin levels and sleep studies confirmed the diagnosis of narcolepsy due to medical condition. Physicians should be aware that neuromyelitis optica spectrum disorders can initially involve the hypothalamus.

Conclusions

We emphasize that measurement of anti–aquaporin 4 antibody is of clinical importance in the differential diagnosis of hypothalamic lesions.

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome BBS1 Mutations in a Wide Spectrum of Phenotypes

Estrada-Cuzcano A, Koenekoop RK, Senechal A, et al. — Thu, 01 Nov 2012 00:00:00 GMT

Objective

To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP).

Methods

Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment.

Results

In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant. In addition, this variant was detected homozygously in 10 RP patients and 1 control, compound heterozygously in 3 patients, and heterozygously in 5 patients and 6 controls. The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS. In 8 of 14 patients, visual acuity was significantly reduced. In patients with electroretinographic responses, a rod-cone pattern of photoreceptor degeneration was observed.

Conclusions

Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis - or trans -acting modifiers may influence the disease phenotype.

Clinical Relevance

It is important to monitor patients with an early diagnosis of mild BBS phenotypes for possible life-threatening conditions.

AMA Publishing Group: Neuroendocrinology Topic Collection

Hypothermia, Hypotension, Hypersomnia, and Obesity Associated With Hypothalamic Lesions in a Patient Positive for the Anti–aquaporin 4 Antibody A Case Report and Literature Review Hypothalamic Lesions and AQP4 Antibody

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome BBS1 Mutations in a Wide Spectrum of Phenotypes