Brain MRI abnormalities in a child with spinal muscular atrophy type II
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LETTER TO THE EDITOR
Brain MRI abnormalities in a child with spinal muscular atrophy type II Luciana Losito1 · Leonarda Gennaro1 · Elisabetta Lucarelli1 · Antonio Trabacca1 Received: 29 May 2020 / Accepted: 8 October 2020 © Belgian Neurological Society 2020
Dear Editor, Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha-motor neurons in the spinal cord, resulting in progressive, generalized muscle weakness and atrophy, predominantly in the proximal limb muscles. The phenotype is divided into 5 levels of severity, which differ in age of onset and in the level of achieved motor functions. The incidence has been estimated in Europe of 1 in 3900–16,000 live births [1]. Mutations in the SMN1 gene, located on chromosome 5q13, are responsible for the disease [2, 3]. Here, we report on a child with SMA II, which also revealed neuroradiological abnormalities, diagnosed by brain MRI (bMRI). This 12-month-old female was born to healthy non-consanguineous parents after an uncomplicated delivery. Her family history was unremarkable. Gradually started from 7 months, she developed progressive hypotonia. Routine laboratory tests and muscle enzymes were normal. Due to recurrent episodes of vomiting, bMRI and abdominal ultrasound were performed. BMRI revealed delayed myelination, with high-intensity areas around the posterior horns of the lateral ventricles (Fig. 1a, b), dysplasia of the corpus callosum with a lipoma, mainly in the splenium (Fig. 1c). Cerebral hemispheres were normal including the cerebellum and brainstem. A slight increase in the choline peak was observed on spectroscopy (Fig. 1d). Spinal Cord MRI, electroencephalography and abdominal ultrasound were normal. Physical examination was unremarkable; generalized muscle weakness and atrophy were apparent. Neurological examination revealed severe symmetric generalized hypotonia, with * Antonio Trabacca [email protected]; [email protected] 1
Scientific Institute I.R.C.C.S. “Eugenio Medea”, “La Nostra Famiglia”, Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Brindisi Research Centre, Ex Complesso Ospedaliero “A. Di Summa”, Piazza “A. Di Summa”, 72100 Brindisi, Italy
proximal weakness affecting the lower limbs more than the upper limbs, lying in a frog-like position, poor trunk control, and fine tremor of upper extremities. Gene analysis showed homozygous deletion of exons 7 and 8 in the SMN1 gene with 3 copies of SMN2, and both her parents were asymptomatic carriers. The measure of functional ability was evaluated using the Hammersmith functional motor scale and total score was 11/66. Descriptions of neuroradiological imaging findings are poorly documented in patients with SMA. Interest in brain imaging of hereditary neuromuscular disorders (HNMD) has increased in recent years. Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in several HNMD and these pathological c
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