ABSTRACT
La microangiopatía cerebral retiniana con calcificaciones y quistes es una enfermedad poco frecuente, caracterizada por alteraciones cerebrales, retinianas y óseas, así como por predisposición al sangrado gastrointestinal. Existen pocos reportes de casos de esta condición, especialmente en adultos, en quienes la incidencia es baja. Los hallazgos por medio de neuroimágenes son característicos, con calcificaciones bilaterales y múltiples formaciones quísticas. El propósito de este artículo fue hacer una revisión bibliográfica e ilustrar dos casos cuyo diagnóstico fue posible con la ayuda de neuroimágenes.
Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by brain, retinal and bone anomalies, as well as a predisposition to gastrointestinal bleeding. There are few reported cases of this condition in adults, among whom the incidence is low. Neuroimaging findings are characteristic, with bilateral calcifications, leukoencephalopathy and intracranial cysts. The purpose of this article was to do a literature survey and illustrate two cases diagnosed with the aid of neuroimaging.
Subject(s)
Adolescent , Adult , Female , Humans , Ataxia/pathology , Brain Neoplasms/pathology , Brain/pathology , Calcinosis/pathology , Central Nervous System Cysts/pathology , Cerebral Small Vessel Diseases/pathology , Leukoencephalopathies/pathology , Magnetic Resonance Imaging , Muscle Spasticity/pathology , Neuroimaging/methods , Retinal Diseases/pathology , Seizures/pathology , Ataxia/diagnosis , Brain Neoplasms/diagnosis , Calcinosis/diagnosis , Central Nervous System Cysts/diagnosis , Cerebral Small Vessel Diseases/diagnosis , Diagnosis, Differential , Hair Color , Hypopigmentation/etiology , Intellectual Disability/etiology , Leukoencephalopathies/diagnosis , Muscle Spasticity/diagnosis , Quadriplegia/etiology , Retinal Diseases/diagnosis , Seizures/diagnosis , Trochlear Nerve Diseases/etiologyABSTRACT
The upper chest wall does not grow properly in children with spinal muscular atrophy (SMA) with paradoxical breathing. This suggests that long-term inability to take a deep breath in developing children may result in underdevelopment of the upper chest wall. In addition, a rapid and paradoxical breathing pattern is frequently observed in children with severe cerebral palsy (CP), which often corresponds to the underdevelopment of the upper chest wall. The present study is designed to evaluate the ratio of the upper to lower chest wall in children with severe spastic quadriplegic CP, compared with normal children. We compared normal children with children that had spastic quadriplegic CP who did not have kyphosis or scoliosis. Test subjects were matched in terms of age, height, and weight. The diameters of upper chest (D(apex)) and of lower chest (D(base)) were measured on the anteroposterior (AP) view of a chest X-ray and the D(apex) to D(base) ratio was calculated. In selected cases the forced vital capacity (FVC) was measured using a Wright Respirometer. The D(apex) to D(base) ratio was significantly lower in the CP group than in the control group (p < 0.001). The ratio increased linearly with age (p < 0.001) in both CP (R = 0.372) and control groups (R = 0.477). The FVC/preFVC showed significant correlation with the D(apex) to D(base) ratio (R = 0.542, p < 0.01). The results of this study suggest a deviation of optimal chest wall structure in children with spastic quadriplegic CP.
Subject(s)
Male , Humans , Female , Child, Preschool , Child , X-Rays , Vital Capacity , Time Factors , Thoracic Wall , Thoracic Cavity , Respiratory Tract Diseases/pathology , Respiration , Quadriplegia/pathology , Muscle Spasticity/pathology , Lung/pathology , Forced Expiratory Volume , Cerebral Palsy/pathology , Case-Control StudiesABSTRACT
A Síndrome de Sjögren-Larsson é uma doença autossômica recessiva rara com distribuiçäo universal. Consiste em ictiose, displegia espástica e retardo mental causado por um defeito enzimático na oxidaçäo do álcool-graxo. Nós relatamos dois casos e fazemos uma revisäo da literatura respectiva. As duas crianças tinham atividade deficiente da NAD oxidorredutase. Foram estudados os lípides de membrana das células plasmáticas e eritrócitos. Bons resultados foram obtidos em um dos pacientes quando submetido a dieta na infância precoce o que se correlacionou com diminuiçäo do álcool-graxo no plasma. Entretanto näo obtivemos melhora clínica no outro paciente cujo tratamento teve início tardio.Terapia com etretinato foi necessária para controlar os sintomas cutâneos neste segundo paciente.