000096183 001__ 96183
000096183 005__ 20220405150420.0
000096183 0247_ $$2doi$$a10.1016/j.medcli.2019.10.005
000096183 0248_ $$2sideral$$a117947
000096183 037__ $$aART-2020-117947
000096183 041__ $$aeng
000096183 100__ $$aArrudi-Moreno, M.
000096183 245__ $$aA new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D
000096183 260__ $$c2020
000096183 5060_ $$aAccess copy available to the general public$$fUnrestricted
000096183 5203_ $$aDear Editor:
Pontocerebellar hypoplasias (PCH) are a heterogeneous groupof autosomal recessive disorders characterized by hypoplasia ofthe ventral pons and cerebellum, with variable cerebral involve-ment and severe psychomotor retardation. Up to now ten differentsubtypes have been reported.The patient is an only child of no consanguineous Moroccanhealthy parents. Her prenatal ultrasound was normal, and birth wasat term via uncomplicated vaginal delivery. Birth weight was 3200 g(42nd), head circumference 34 cm (27th), length 53 cm (97th).At 18-month-old, she was admitted to our hospital to be studieddue to psychomotor delay, quadriplegia and microcephaly. Clin-ical examination revealed inability to sedestation, standing withsupport, spastic quadriplegia with hyperreflexia and microcephaly. First Brain Magnetic Resonance Imaging (MRI) performed at14 months old was normal (Fig. 1A).Study of metabolic diseases was normal and included: thy-roid function, full blood count, lipids, hepatic profile, ironmetabolism, vitamin B12, folic acid, carnitine profile, homocys-teine, lysosomal enzymes, beta-hydroxybutyrate, amino acids, carbohydrate-deficient transferrin, long-chain and very long-chain fatty acids, copper and ceruloplasmin, ammonium, lactateand biotinidase activity and urine organic acids. Serology ofcytomegalovirus was negative. Ophthalmological, abdominal ultra-sound, cardiologic examination, electromyography and nerveconduction studies were normal. Karyotype and arrayCGH foundno alterations.At 28-month-old, botulin...
000096183 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000096183 590__ $$a1.725$$b2020
000096183 591__ $$aMEDICINE, GENERAL & INTERNAL$$b105 / 169 = 0.621$$c2020$$dQ3$$eT2
000096183 592__ $$a0.266$$b2020
000096183 593__ $$aMedicine (miscellaneous)$$c2020$$dQ3
000096183 655_4 $$ainfo:eu-repo/semantics/other$$vinfo:eu-repo/semantics/publishedVersion
000096183 700__ $$aFernández-Gómez, A.
000096183 700__ $$0(orcid)0000-0002-9336-780X$$aPeña-Segura, J.L.$$uUniversidad de Zaragoza
000096183 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000096183 773__ $$g156, 2 (2020), 94-95$$pMed. clín.$$tMedicina Clinica$$x0025-7753
000096183 8564_ $$s313910$$uhttps://zaguan.unizar.es/record/96183/files/texto_completo.pdf$$yVersión publicada
000096183 8564_ $$s41324$$uhttps://zaguan.unizar.es/record/96183/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000096183 909CO $$ooai:zaguan.unizar.es:96183$$particulos$$pdriver
000096183 951__ $$a2022-04-05-14:39:33
000096183 980__ $$aARTICLE