Coexistencia de Malformación de Chiari Tipo I, Mielitis Transversa y Deficiencia de Carnitina Palmitoiltransferasa II en una Paciente Pediátrica: Informe de Caso

Abstract

Introduction: Congenital carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder with phenotypic variability depending on the age of symptom onset. Three clinical forms are described: the perinatal (lethal neonatal), infantile, and adult (myopathic) forms. The objective of this report is to describe the association of two rare congenital diseases that exacerbate the symptoms of a patient whose prognosis for ambulation is guarded. Case presentation: A 7-year-old female patient presented with symptom onset at one year and one month of age after falling from a height of 60 cm while sleeping in bed, without loss of consciousness. She progressively developed decreased muscle tone in the upper and lower extremities, along with loss of head and trunk control, and was diagnosed with transverse myelitis. A follow-up MRI revealed Arnold-Chiari malformation type I. Muscle weakness persisted in both legs; she is unable to walk, has severe psychomotor delay, and lacks bowel and bladder control. Clinical exome sequencing revealed a pathogenic variant in the CPT2 gene (c.338C>T; p.Ser113Leu, heterozygous) associated with carnitine palmitoyltransferase type II deficiency. Conclusion: CPT II deficiency and Arnold-Chiari malformation type I are distinct conditions, but their symptoms can overlap, causing problems such as muscle weakness and psychomotor delay in CPT II deficiency, and neurological coordination and balance problems in Arnold-Chiari malformation type I, which together impair this patient's speech and ambulation.