RESUMEN
Acute neuromuscular disorders occasionally occur in the Pediatric Neurologic Intensive Care Unit. Many of these are primary disorders of the motor unit that may present acutely or exacerbate during an intercurrent illness. Additionally, acute neuromuscular disorders may develop during an acute systemic illness requiring intensive care management that predispose the child to another set of acute motor unit disorders. This chapter discusses acute neuromuscular crises in the infant, toddler, and adolescent, as well as neuromuscular disorders resulting from critical illness.
Asunto(s)
Enfermedad Crítica , Enfermedades Neuromusculares , Humanos , Enfermedades Neuromusculares/fisiopatología , Enfermedades Neuromusculares/terapia , Enfermedades Neuromusculares/diagnóstico , Recién Nacido , Niño , Lactante , Preescolar , Adolescente , Unidades de Cuidado Intensivo PediátricoAsunto(s)
Apnea , Ruidos Respiratorios , Lactante , Humanos , Ruidos Respiratorios/etiología , Frecuencia RespiratoriaAsunto(s)
Adenilosuccinato Liasa/deficiencia , Adenilosuccinato Liasa/genética , Agenesia del Cuerpo Calloso/fisiopatología , Trastorno Autístico/genética , Discapacidades del Desarrollo/fisiopatología , Epilepsia/fisiopatología , Lisencefalia/fisiopatología , Hipotonía Muscular/fisiopatología , Errores Innatos del Metabolismo de la Purina-Pirimidina/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/fisiopatología , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Trastorno Autístico/diagnóstico , Trastorno Autístico/fisiopatología , Vermis Cerebeloso/anomalías , Vermis Cerebeloso/diagnóstico por imagen , Corteza Cerebral/anomalías , Corteza Cerebral/diagnóstico por imagen , Electroencefalografía , Heterocigoto , Humanos , Recién Nacido , Lisencefalia/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Mutación , Tamaño de los Órganos , Errores Innatos del Metabolismo de la Purina-Pirimidina/diagnóstico , Errores Innatos del Metabolismo de la Purina-Pirimidina/fisiopatología , Secuenciación del ExomaRESUMEN
AIM: Nutritional B12 deficiency is a treatable cause of neurodevelopmental delay in infants. We report 21 infants with developmental regression and brain atrophy as revealed using cranial magnetic resonance imaging (MRI), secondary to severe vitamin B12 deficiency. METHODS: Twenty-one infants aged 4-24 months with B12 deficiencies who were admitted to our clinic between May 2013 and May 2018 were included in the study. MRI, bone marrow aspiration and the Denver-II Developmental Screening Test were performed in all infants. RESULTS: The mean age of the infants was 12.3 months, and the mean B12 level was 70.15 ± 32.15 ng/L. Hypotonia and neurodevelopmental retardation, and anaemia were present in all patients. Their bone marrow examinations were compatible with megaloblastic anaemia. Twelve patients had microcephaly, seven had tremor and one patient died of severe sepsis. Almost all patients were fed with breast milk and their mothers were also malnourished. Nine (42.9%) of the patients were Turkish and 12 (57.1%) were Syrian. All patients had abnormal Denver-II Developmental Screening Test scores. Most patients had severe cortical atrophy, cerebral effusion, thinning of the corpus callosum and delayed myelinisation in cranial MRI. Treatment with B12 resulted in dramatic improvement in general activity and appetite within 72 h. Tremors resolved in all cases. CONCLUSION: Neurological findings and developmental delay related to nutritional B12 deficiency can be prevented without sequelae if diagnosed early. Screening and treating of mothers for this deficiency will contribute to the health of both the mother and their feeding infant.