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A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

ABSTRACT: BACKGROUND:An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify the most helpful features allowing a prompt clinical diagnosis. METHODS:Medical records of patients with CHARGE syndrome whose diagnosis was made at the Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico in Milan, Italy were retrospectively reviewed. RESULTS:Taken together, these patients reflect the considerable phenotypic variability of the syndrome; in one patient, the diagnosis was made immediately after birth because all the major criteria were met. In six patients, presenting with relatively nonspecific defects, a temporal bone computerized tomography scan was essential to achieve the correct diagnosis. In one patient, the diagnosis was made later than the others were. A careful examination revealed the presence of outer, middle, and inner ear anomalies: these elements, in the absence of any additional major criteria, represented for us an important diagnostic clue. CONCLUSIONS:This article suggests that an accurate evaluation of the ear should be made every time CHARGE syndrome is considered as a likely diagnosis even when the standard criteria are not fulfilled.

SUBMITTER: Bedeschi MF

PROVIDER: S-EPMC7181484 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

Bedeschi Maria Francesca MF Crippa Beatrice Letizia BL Colombo Lorenzo L Buscemi Martina M Rossi Cesare C Villa Roberta R Gangi Silvana S Picciolini Odoardo O Cinnante Claudia C Fergnani Viola Giulia Carlina VGC Ajmone Paola Francesca PF Scola Elisa E Triulzi Fabio F Mosca Fabio F

Italian journal of pediatrics 20200423 1

<h4>Background</h4>An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify the most helpful features allowing a prompt clinical diagnosis.<h4>Methods</h4>Medical records of patients with CHARGE syndrome whose diagnosis was made at the Fondazione IRCCS Ca' Granda Ospedale Maggio ...[more]

PMID: 32326958

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Project description:ObjectivesNodding syndrome is a devastating neurological disorder of uncertain aetiology affecting children in Africa. There is no diagnostic test, and risk factors and symptoms that would allow early diagnosis are poorly documented. This study aimed to describe the clinical, electrophysiological and brain imaging (MRI) features and complications of nodding syndrome in Ugandan children.DesignCase series.Participants22 children with nodding syndrome brought to Mulago National Referral Hospital for assessment.Outcome measuresClinical features, physical and functional disabilities, EEG and brain MRI findings and a staging system with a progressive development of symptoms and complications.ResultsThe median age of symptom onset was 6 (range 4-10) years and median duration of symptoms was 8.5 (range 2-11) years. 16 of 22 families reported multiple affected children. Physical manifestations and complications included stunting, wasting, lip changes and gross physical deformities. The bone age was delayed by 2 (range 1-6) years. There was peripheral muscle wasting and progressive generalised wasting. Four children had nodding as the only seizure type; 18 in addition had myoclonic, absence and/or generalised tonic-clonic seizures developing 1-3 years after the onset of illness. Psychiatric manifestations included wandering, aggression, depression and disordered perception. Cognitive assessment in three children demonstrated profound impairment. The EEG was abnormal in all, suggesting symptomatic generalised epilepsy in the majority. There were different degrees of cortical and cerebellar atrophy on brain MRI, but no hippocampal changes. Five stages with worsening physical, EEG and brain imaging features were identified: a prodrome, the development of head nodding and cognitive decline, other seizure types, multiple complications and severe disability.ConclusionsNodding syndrome is a neurological disorder that may be characterised as probably symptomatic generalised epilepsy. Clinical manifestations and complications develop in stages which might be useful in defining treatment and rehabilitation. Studies of risk factors, pathogenesis, management and outcome are urgently needed.

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A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

Publications

A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

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