RESUMEN
BACKGROUND: The presentation of idiopathic intracranial hypertension (IIH) in association with iron deficiency anemia (IDA) is rare. CASE PRESENTATION: This case report depicts the unusual case of a 31-year-old woman of mixed Jamaican and English heritage with IIH who presented initially as IDA in the context of menorrhagia. Subsequent ophthalmic review, lumbar puncture, cerebrospinal fluid analysis and neuroimaging studies revealed severe bilateral optic disc swelling and raised intracranial pressure in keeping with IIH. Prompt treatment of IDA with blood transfusion and orally administered iron supplements, in addition to medical treatment for IIH, contributed to significant improvement of symptoms and prevented long-term visual deficits. CONCLUSION: The possibility of IDA, albeit rare, should always be considered and investigated appropriately in all patients with IIH, as the treatment of the anemia alone may be sight-saving.
Asunto(s)
Anemia Ferropénica , Hipertensión Intracraneal , Papiledema , Seudotumor Cerebral , Adulto , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/tratamiento farmacológico , Anemia Ferropénica/etiología , Femenino , Humanos , Seudotumor Cerebral/complicaciones , Seudotumor Cerebral/diagnóstico , Seudotumor Cerebral/tratamiento farmacológico , Punción EspinalAsunto(s)
Diplopía/diagnóstico , Diplopía/etiología , Cefalea/diagnóstico , Cefalea/etiología , Seudotumor Cerebral/complicaciones , Enfermedades del Nervio Abducens/etiología , Enfermedades del Nervio Abducens/fisiopatología , Inhibidores de Anhidrasa Carbónica/uso terapéutico , Presión del Líquido Cefalorraquídeo/fisiología , Derivaciones del Líquido Cefalorraquídeo/instrumentación , Derivaciones del Líquido Cefalorraquídeo/métodos , Diagnóstico por Imagen/normas , Diuréticos/uso terapéutico , Ojo/patología , Ojo/fisiopatología , Femenino , Humanos , Imagen por Resonancia Magnética , Masaje/efectos adversos , Obesidad/complicaciones , Nervio Óptico/patología , Nervio Óptico/fisiopatología , Papiledema/etiología , Papiledema/fisiopatología , Seudotumor Cerebral/diagnóstico , Seudotumor Cerebral/fisiopatología , Degeneración Retiniana/etiología , Degeneración Retiniana/fisiopatología , Resultado del Tratamiento , Baja Visión/etiología , Baja Visión/fisiopatología , Adulto JovenRESUMEN
We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri). The patient, her twin sister, and her mother also presented with cerebral cavernous malformations. Based on the early onset and normocalciuria, Bartter syndrome was diagnosed first. However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS. These mutations were not detected in 200 normal chromosomes and cosegregated within the family. Analysis of complementary DNA showed that the heterozygous nucleotide change c.2633+1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del). Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired. Three similar associations of Bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension. This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children. It also shows the independent segregation of familial cavernomatosis and GS.