megalencephaly/تقيؤ

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CT and MR in infants with pericerebral collections and macrocephaly: benign enlargement of the subarachnoid spaces versus subdural collections.

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OBJECTIVE To compare CT and MR in the differentiation of benign enlargement of the subarachnoid spaces and subdural collections in infants with macrocephaly. METHODS MR was performed in 19 infants with macrocephaly, showing bifrontal enlargement of the subarachnoid spaces on CT. RESULTS In 11

Supraorbital Keyhole Microsurgical Fenestration of Symptomatic Temporal Arachnoid Cysts in Children: Advantages and Limitations.

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OBJECTIVE To investigate the impact of endoscope-assisted microsurgical fenestration on temporal arachnoid cysts, and to determine the advantages and limitations of the technique. METHODS Twenty-five children with symptomatic temporal arachnoid cysts were operated via eyebrow supraorbital keyhole

[Clinical suspicion of inborn errors of metabolism].

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A number of inherited metabolic disorders are diagnosed by means of the nationwide newborn screening programme, usually before the first clinical signs occur. As for the rest of the varied metabolic disorders, knowledge and intuition of the paediatrician is a prerequisite for selection of patients

Intracranial arachnoid cyst on dental radiography: a diagnostic challenge.

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Intracranial arachnoid cysts (IACs) can present as congenital asymptomatic lesions that may predispose them to present as an incidental finding during radiographic examination. On the other hand, IACs may also give rise to a series of neurologic symptoms depending on their size and location, such as

The detection and management of intracranial hypertension after initial suture release and decompression for craniofacial dysostosis syndromes.

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We performed a retrospective study of 107 consecutive patients with syndromic forms of craniosynostosis (craniofacial dysostosis) seen by the craniofacial team at the Hospital for Sick Children between 1986 and 1992. There were 51 patients with Crouzon's syndrome, 33 with Apert's syndrome, 8 with

[Treatment of child hydrocephalus by endoscopic third ventriculostomy in Senegal].

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BACKGROUND Since its advent, endoscopic third ventriculostomy (ETV) has been an effective alternative to shunt placement for the treatment of hydrocephalus. The aim of this study was to report the results of our experience with this technique in children in Senegal. METHODS This was a retrospective

Presenting symptoms of pediatric brain tumors diagnosed in the emergency department.

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OBJECTIVE The primary objective of this study is to categorize the symptoms associated with brain tumors as diagnosed in the emergency department (ED). The secondary objective is to detail the specific characteristics of these headaches via a subgroup analysis. METHODS A retrospective chart review

Spongy degeneration of the CNS in infancy.

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We studied six cases of spongy degeneration of the CNS in infancy among Chinese. The main clinical features were cyclical vomiting and wailing, blindness, megalocephaly, convulsions, lethargy, and coma. Chief findings from light microscopic studies were spongiform change, moderate outfall of

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

Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome.

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OBJECTIVE Silver-Russell syndrome (SRS) is an imprinted disorder characterised by intrauterine growth retardation, relative macrocephaly, failure to thrive, typical facial phenotype and frequent body asymmetry. Feeding difficulties are frequently noted, but no study described evolution of

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

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De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site

Subclinical meningoventriculitis as a cause of obstructive hydrocephalus.

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Communicating hydrocephalus may complicate infantile bacterial meningitis, typically presenting with systemic features of infection. We report a rare case of 'subclinical meningoventriculitis' causing obstructive hydrocephalus and its challenging management. A healthy 10-week-old immunocompetent

[Citrobacter koseri brain abscess in an infant: case report and literature review].

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We present a 2 month-old female infant admitted to the hospital with macrocephaly as main clinical sign, irritability, and vomiting. The computer tomography scanning showed a cystic frontal image with contralateral ventricle displacement. Surgical intervention was performed. Purulent material

Glutaric aciduria type II [corrected] and brain tumors: a case report and review of the literature.

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Heritable diseases associated with childhood tumors are sometimes defined as a probable etiologic factor or a coincidence. First of all, we must know the actual number of patients. Herein a case with medulloblastoma associated with glutaric aciduria type II [corrected] is reported for this purpose.

Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.

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We provide a detailed clinical and molecular analysis of 2 patients with de novo interstitial duplications at 2p14-p16.1 and 2p16.1-p22.1. The 10.13-Mb duplication of chromosome 2p14-p16.1 was identified in a 9-year-old boy with mental retardation, behavioral problems (hyperactivity, hyperphagia,

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