microcephaly/kräkning

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A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase.

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Deficiency of dihydropyrimidine dehydrogenase (DPD) is a rare inborn error of pyrimidine metabolism. To date, only about 50 patients are known worldwide. The clinical picture is varied and is not yet fully described. Most patients are diagnosed at the age of 1-3 years. We present a patient diagnosed

Achalasia and microcephaly.

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The authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

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Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM:

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

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Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal

[Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].

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OBJECTIVE To explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research reports. METHODS Clinical and laboratory data of one case of neonatal CdLS are reported, and literature on 17 cases of CdLS in China and the international reports of the

Evaluation of 98 immunocompetent children with cytomegalovirus infection: importance of neurodevelopmental follow-up.

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This study aims to analyze and evaluate the clinic and demographic features of immunocompetent children that have been diagnosed with cytomegalovirus (CMV) infection. The data of children diagnosed with CMV infection between January 2005 and December 2010 and their follow-ups for 2 years were

A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.

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Mutations in the X-linked E1α subunit of the pyruvate dehydrogenase complex (PHDC) are the most frequent causes of PDHC deficiency. The clinical picture is heterogeneous depending on residual enzyme activity and X-inactivation. We report on a girl who presented at an age of 3 weeks with muscular

Vitamin K deficiency--late onset intracranial haemorrhage.

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A retrospective study is presented of the clinical features and outcome of late onset haemorrhagic disease due to vitamin K deficiency in 11 babies who were admitted to the emergency or child neurology unit during a 4-year period (January 1994-December 1997). The disease occurred in infants between

Atelencephaly.

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A 13 1/2-month-old boy with severe microcephaly was found to have nearly total absence of the telencephalon. The patient had marmorated skin, hypoplastic penis and undescended testes. Spastic tetraparesis was present. Moro, grasp and sucking reflexes were easily elicited. He could not sit or stand,

Pallister-Hall Syndrome.

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Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this

First Locally Acquired Congenital Zika Syndrome Case in the United States: Neonatal Clinical Manifestations.

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In the spring of 2017, a full-term infant with microcephaly was delivered in South Florida. During first trimester, the mother presented with fever, nausea, and vomiting. She reported no foreign travel for herself or her partner. The infant's neurologic, ophthalmologic, neuroradiologic, and

[Krabbe s disease - case report]

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OBJECTIVE: Report a case of Krabbés disease with necropsy. METHODS: Review of medical and necropsy records. RESULTS: An 8 months-old male patient developed tremors, swallowing difficulty and excessive salivation for 4 months prior to admission, evolving with vomiting and fever. Physical examination

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.

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Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and

Neurodegenerative diseases in children.

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The detection of neurodegenerative and neurometabolic diseases in children relies on a high index of suspicion as most will present as common paediatric problems such as recurrent vomiting, feeding problem, failure to thrive, sepsis, or developmental delay. Alternatively, children may present with

Hepatic Failure following Metronidazole in Children with Cockayne Syndrome.

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Cockayne syndrome is an uncommon autosomal recessive disease characterized by microcephaly, abnormal growth, and pathologic premature aging. The purpose of this report is to evaluate liver failure in children with Cockayne syndrome following metronidazole administration. The first case was a

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