A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome
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LETTER TO THE EDITOR
A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome Valentina Pelliccia 1 & Silvia Ferranti 1
&
Rosa Mostardini 2 & Salvatore Grosso 1,2
Received: 14 May 2019 / Accepted: 11 September 2019 # Fondazione Società Italiana di Neurologia 2019
Introduction 16p11.2 microdeletion syndrome is a rare disorder that can exhibit a wide range of clinical phenotypes including hypotonia, macrocephaly, mental, motor, and speech retardation, behavioral problems, autism spectrum disorders, hyperphagia, and obesity [1, 2]. Some cases with feeding difficulties and short stature were described. Moreover, congenital malformations, dysmorphic features, and epileptic seizures are possible [2, 3]. A completely different genetic mechanism is the one responsible for Friedreich ataxia; the disorder is provoked by an unstable expansion of the GAA triplet located in the frataxin gene [4]. Friedreich ataxia is the most common type of inherited ataxia; onset of symptoms usually occurs during adolescence, and clinical course is slowly progressive. The main clinical signs include gait imbalance, abnormal eye movements, scoliosis, feet deformities, urinary dysfunction, and cardiac involvement [5].
Case report We present the case of a 17-year-old male boy who was referred to us during childhood for a neurodevelopmental delay. He presented a moderate degree cognitive and speech retardation, obesity, short stature, scoliosis, and primary nocturnal enuresis. Based upon these findings, we speculated on a potential genetic etiology of his clinical picture. Array CGH was * Silvia Ferranti [email protected] 1
Dipartimento di Medicina Molecolare e dello Sviluppo, Universita’ degli Studi di Siena, viale Bracci, 53100 Siena, Italy
2
U.O.C. Pediatria, Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100 Siena, Italy
performed and revealed a 16p11.2 microdeletion, which was interpreted as pathogenic. During adolescence, he started to show a progressive clumsiness with impairment in hand use and worsening of the spinal curve. He underwent two instrumented spinal arthrodesis, and after the second procedure, gait unsteadiness became more severe, with the need for support to counteract the tendency to lose balance. Neurological examination performed at the age of 16 revealed dysmetria, dysarthria with scanning speech, slightly ataxic gait, positive Romberg test, absence of deep tendon reflexes and flexor plantar reflex, and bilateral horizontal nystagmus during extreme lateral gaze. Brain magnetic resonance imaging was performed, and it did not document any pathological abnormality nor change in comparison with a previous one. Spinal magnetic resonance imaging revealed the straightening of the cervical curve, S-shape spinal scoliosis with lumbar vertebral body rotation and a disk protrusion. Diagnostic workup also included neurophysiological studies. Electroneurography showed a significantly reduced amplitude of the sensory nerve action potential and a slight slowing of the conduction ve
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