RESUMO
A 14-year-old girl presented with acute ascending, symmetric numbness, and flaccid paralysis 3 weeks after a suspected gastrointestinal infection. She had experienced anorexia since this gastrointestinal episode. EMG showed a sensorimotor axonal polyneuropathy. Routine CSF analysis and serum-specific antibodies (antiganglioside and node of Ranvier-associated antibodies) were all negative. Laboratory investigations for possible etiologies revealed only mild metabolic perturbations. During her hospitalization, she developed mild cognitive deficits. Brain MRI showed bilateral symmetric basal ganglia lesions with hyperintensity on T2 fluid-attenuated inversion recovery, diffusion-weighted imaging hyperintensity, and corresponding apparent diffusion coefficient hypointensity, but without contrast enhancement. A more thorough and detailed history indicated exercise intolerance, and specific examinations subsequently revealed an underlying etiology. This case presentation discusses specific etiology of an acute-onset diffuse and symmetric neuropathy after an acquired injury in a teenager, emphasizing the need of a broad differential diagnosis in this condition.
Assuntos
Encefalopatias , Doenças do Sistema Nervoso Periférico , Humanos , Feminino , Adolescente , Encefalopatias/diagnóstico , Encefalopatias/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Imagem de Difusão por Ressonância Magnética , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico , Raciocínio ClínicoRESUMO
(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.
Assuntos
Microcefalia , Proteína de Capeamento de Actina CapZ , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Humanos , Lactente , Microcefalia/complicações , Microcefalia/genética , Linhagem , FenótipoRESUMO
Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.1187G>A) and who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in our patient. This finding further identifies DDOST as a genetic cause of CDGs and expands the clinical phenotype of DDOST-CDG.