Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Q96955): Difference between revisions
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Esta síndrome é caracterizada por diabetes mellitus neonatal associada a agenesia cerebelar e/ou pancreática. Foi descrita em quatro pacientes: duas irmãs e sua prima pertencente a uma família paquistanesa consanguínea, e um caso não relacionado (também nascido de pais consanguíneos). Os pacientes também apresentam dismorfismo facial (rosto triangular, queixo pequeno, orelhas baixas), contraturas de flexão de braços e pernas, muito pouca gordura subcutânea e hipoplasia do nervo óptico. Um dos pacientes tinha agenesia pancreática, e havia suspeita de hipoplasia pancreática para os outros. A síndrome é transmitida como um transtorno recessivo autossômico. É causada por mutações no gene PTF1A (10p12.3). O diagnóstico pré-natal é possível por meio da demonstração da ausência do cerebelo e do grave atraso no crescimento intrauterino. Todos os pacientes morreram no período neonatal. | |||
| description / en | description / en | ||
This syndrome is characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period. | |||
Revision as of 12:59, 16 August 2026
This syndrome is characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1871318195 |
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| English | Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis |
This syndrome is characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period. |
