ROHHAD(NET) Syndrome: Systematic review of the clinical timeline and recommendations for diagnosis and prognosis.

in The Journal of clinical endocrinology and metabolism (2020)

CONTEXT: Rapid onset Obesity with Hypothalamic dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor Syndrome (ROHHHAD(NET)) is a rare and potentially fatal disease. No specific ... [more ▼]

CONTEXT: Rapid onset Obesity with Hypothalamic dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor Syndrome (ROHHHAD(NET)) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. OBJECTIVE: To describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. DESIGN: We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. METHODS: All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the PRISMA individual patient data (IPD) guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, outcome. RESULTS: 43 IPD were analyzed. The timeline of the disease shows rapid onset obesity followed shortly afterwards by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2,2 years after the initial obesity. A NET was reported in 56% of the patients and 70% of these tumors were diagnosed within 2 years after initial weight gain. CONCLUSION: Since early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with a rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy. [less ▲]

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Brain imaging and genetics in patients with congenital hypogonadotropic hypogonadism: a multicenter Belgian study.

in Jorgensen, Jens OL (Ed.) NENEG Abstract Book Communications (2018, April 19)

Brain MRI abnormalities and genetic results in a series of 30 patients with congenital isolated hypogonadotrophic hypogonadism (CIHH)

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De l'utilité d'une consultation conjointe de gynécologie- endocrinologie pédiatrique : étude rétrospective des motifs de consultation et approche pratique

in Revue Médicale de Liège (2011), 66(11), 581-8

The gynaecological issues encountered in children and teenagers lay at the intersection of paediatric endocrinology and gynaecology. More than ten years ago, an outpatient clinic in paediatric ... [more ▼]

The gynaecological issues encountered in children and teenagers lay at the intersection of paediatric endocrinology and gynaecology. More than ten years ago, an outpatient clinic in paediatric endocrinology and gynaecology has been created. Here, we review the last 6 years. 214 girls were included, considering only the first visit for each patient. Collected data are initial concern for this consultation, age at first consultation and confirmed or suspected diagnosis. A classification is done according to the initial concern of patients in six categories. Principal queries concern pubertal development, precocious pilosity or abnormalities in menstrual cycles. Vulvovaginitis and morphologic abnormalities are also frequently encountered. This consultation suggests a paediatric approach with a child feeling confident and a gynaecological examination with a specialist knowing the anatomy particularities and the development of the children. This article focuses on the importance of specific gynaecological examination in children and reviews the main diseases encountered. [less ▲]