RESUMO

BACKGROUND Primary ciliary dyskinesia (PCD) is a disease characterized by motor ciliary dysfunction, which leads to the accumulation of secretions in the lower airways and, consequently, to atelectasis and repeated infections. During the neonatal period, diagnosis can be difficult because the symptoms are frequently associated with other respiratory diseases common in neonates. The laterality defects should warn the clinician of the need for further investigation using clinical criteria, but the confirmation depends on a genetic test. CASE REPORT The objective of this report is to present a case of PCD manifesting in the neonatal period that was diagnosed due to respiratory failure associated with recurrent atelectasis and situs inversus totalis. CONCLUSIONS This disease is not well known by neonatologists, but early diagnosis decreases morbidity and improves patient quality of life.

Assuntos

Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/terapia , Atelectasia Pulmonar/etiologia , Atelectasia Pulmonar/terapia , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Administração por Inalação , Pressão Positiva Contínua nas Vias Aéreas , Diagnóstico Diferencial , Humanos , Recém-Nascido , Masculino , Situs Inversus

RESUMO

A 9-year-old female child presented with a history of falls, weight loss, diffuse leg pain, and progressive gait disorder, following 1 previous event described as a tonic-clonic seizure. She had increased thyroid volume, brisk symmetric reflexes, abnormal gait, and painful spasms of the paraspinal musculature. Thyroid function tests indicated biochemical hyperthyroidism, and thyrotropin receptor antibodies were positive. Her electromyography showed continuous activation of normal motor units of the paraspinal and proximal lower extremity muscles. The patient had a diagnosis of Graves' disease with associated stiff-person syndrome, with elevated anti-glutamic acid decarboxylase antibody levels. After intravenous immunoglobulin therapy, her ambulation was substantially improved and the symptoms of stiff-person syndrome decreased dramatically.