Sleep-related hypoventilation due to partial biotinidase deficiency: a case report

Abstract

Idiopathic sleep-related hypoventilation occurs in individuals with hypercapnia during sleep in normal conditions of the respiratory system in the absence of other disorders. Patients with this condition may be asymptomatic or have complaints of morning headache, cognitive deficit and fatigue, and observation of shallow breathing. This report describes the case of a 3-year-old patient with normal physical and neurological exam, appropriate neuropsychomotor development, presenting breathing irregularities, and bradycardia during sleep. The patient was referred to an investigation for sleep respiratory disturbs and was diagnosed with hypoventilation related to sleep. The genetic study, done by enzymatic dosages and molecular genetic tests, showed the deficiency of biotinidase as a possible cause of symptomatology. The drug treatment was initiated early with the resolution of the symptoms. The present clinical report highlights the biotinidase deficiency with an isolated cardiorespiratory condition in a neurologically normal child, which also led to Breath-Holding Spells. This relation was suggested after central hypoventilation resolution following biotin introduction. Besides, Apparent Life-Threatening Events symptoms, which terrify the observer and even professionals, disappeared after the oral intake of biotin. Finally, this case report corroborates the expansion of possibilities for the phenotypic manifestations of late cases from biotinidase deficiency, as the SHC phenotype.