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: (Published version)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you may not distribute the modified material.
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: (Published version)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you may not distribute the modified material. Exportado de SIDERAL (2022-04-05-14:39:33)
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Record created 2020-11-17, last modified 2022-04-05