A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D
Arrudi-Moreno, M. ; Fernández-Gómez, A. ; Peña-Segura, J.L. (Universidad de Zaragoza)
Resumen: Dear 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...
Idioma: Inglés
DOI: 10.1016/j.medcli.2019.10.005
Año: 2020
Publicado en: Medicina Clinica 156, 2 (2020), 94-95
ISSN: 0025-7753
Factor impacto JCR: 1.725 (2020)
Categ. JCR: MEDICINE, GENERAL & INTERNAL rank: 105 / 169 = 0.621 (2020) - Q3 - T2
Factor impacto SCIMAGO: 0.266 - Medicine (miscellaneous) (Q3)
Tipo y forma: (Versión definitiva)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)
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Exportado de SIDERAL (2022-04-05-14:39:33)
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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...
Idioma: Inglés
DOI: 10.1016/j.medcli.2019.10.005
Año: 2020
Publicado en: Medicina Clinica 156, 2 (2020), 94-95
ISSN: 0025-7753
Factor impacto JCR: 1.725 (2020)
Categ. JCR: MEDICINE, GENERAL & INTERNAL rank: 105 / 169 = 0.621 (2020) - Q3 - T2
Factor impacto SCIMAGO: 0.266 - Medicine (miscellaneous) (Q3)
Tipo y forma: (Versión definitiva)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)
Debe reconocer adecuadamente la autoría, proporcionar un enlace a la licencia e indicar si se han realizado cambios. Puede hacerlo de cualquier manera razonable, pero no de una manera que sugiera que tiene el apoyo del licenciador o lo recibe por el uso que hace. No puede utilizar el material para una finalidad comercial. Si remezcla, transforma o crea a partir del material, no puede difundir el material modificado.Exportado de SIDERAL (2022-04-05-14:39:33)
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Este artículo se encuentra en las siguientes colecciones:
Artículos > Artículos por área > Pediatría
Registro creado el 2020-11-17, última modificación el 2022-04-05