RESUMO
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare genetic condition with approximately 450 patients reported worldwide, inherited in an autosomal recessive manner affecting gamma-aminobutyric acid (GABA) metabolism, characterized by varied clinical features. We report a fetal case of a four-month-old female infant presenting with severe, progressive seizures leading to fatality. Despite aggressive medical interventions, including multiple antiepileptic medications and a ketogenic diet, the patient's condition deteriorated rapidly. Genetic testing revealed a homozygous mutation in the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene. This present case emphasizes the difficulties in controlling SSADH deficiency and emphasizes the necessity for additional studies on successful therapy approaches.
RESUMO
Kindler syndrome (KS) is an autosomal recessive genodermatosis characterized by skin atrophy, blistering, photosensitivity, and mucosal inflammation. We present a unique case of KS with early and severe neonatal onset in a two-month-old female who presented with severe failure to thrive (FTT) and chronic diarrhea since birth. The infant also had multiple fluid-filled cysts on her foot since birth, which resolved and reappeared at different sites. Anemia, hyponatremia, and coloboma of the right iris were also observed. Whole exome sequencing revealed a homozygous mutation in the FERMT1 gene, confirming the diagnosis of KS. Our case demonstrates a distinct clinical phenotype involving severe colitis and FTT in addition to the typical skin manifestations of KS. This atypical presentation highlights the need for further investigations to gain insights into the impact of the kindlin-1 defect on organs beyond the skin and to explore potential therapeutic approaches for managing severe colitis in affected patients.
