Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neuroendocrine Tumor (ROHHADNET) Syndrome: A Case Report
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作者:
Aldirawi, Mohammed
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机构:
Al Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab EmiratesAl Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
Aldirawi, Mohammed
[1
]
Yavuz, Lemis
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Al Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab EmiratesAl Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
Yavuz, Lemis
[1
]
Ghoweba, Yousra
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Al Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab EmiratesAl Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
Ghoweba, Yousra
[1
]
Mohamedali, Saril
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Al Jalila Childrens Specialty Hosp, Emergency, Dubai, U Arab EmiratesAl Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
Mohamedali, Saril
[2
]
Chencheri, Nidheesh
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Al Jalila Childrens Specialty Hosp, Pediat Neurol, Dubai, U Arab EmiratesAl Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
Chencheri, Nidheesh
[3
]
Thalange, Nandu
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机构:
Mohammed Bin Rashid Univ, Med, Dubai, U Arab Emirates
Al Jalila Childrens Specialty Hosp, Endocrinol, Dubai, U Arab EmiratesAl Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
Thalange, Nandu
[4
,5
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机构:
[1] Al Jalila Childrens Specialty Hosp, Pediat, Dubai, U Arab Emirates
[2] Al Jalila Childrens Specialty Hosp, Emergency, Dubai, U Arab Emirates
[3] Al Jalila Childrens Specialty Hosp, Pediat Neurol, Dubai, U Arab Emirates
[4] Mohammed Bin Rashid Univ, Med, Dubai, U Arab Emirates
[5] Al Jalila Childrens Specialty Hosp, Endocrinol, Dubai, U Arab Emirates
Here, we report the case of a rare and complex disorder, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neuroendocrine tumor (ROHHADNET) syndrome, in a threeyear-old girl with no significant medical history. This is the first such case reported from the UAE. ROHHADNET is a rare disorder of respiratory control and autonomic nervous system regulation with endocrine abnormalities. It typically presents in children older than 18 months with rapid weight gain. This is a challenging diagnosis as there is no clear diagnostic test, and treatment is essentially supportive. This report describes a case of ROHHADNET syndrome in a previously well child who presented with rapid weight gain followed by ophthalmoplegia, dysphagia, electrolyte disturbance, and other comorbidities. The paper outlines in detail the clinical course, investigations, and management of ROHHADNET syndrome. Cerebrospinal fluid analysis revealed oligoclonal bands, which have been reported in only two other cases of ROHHADNET syndrome. Our goal in reporting this case is to increase awareness of this condition among clinicians to facilitate early diagnosis and timely management.
机构:
Bambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, ItalyBambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, Italy
Rossetti, E.
Bianchi, R.
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Bambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, ItalyBambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, Italy
Bianchi, R.
Paglietti, M. G.
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Bambino Gesu Pediat Hosp, Pediat Dept, Resp Unit, IRCCS, I-00165 Rome, ItalyBambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, Italy
Paglietti, M. G.
Cutrera, R.
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Bambino Gesu Pediat Hosp, Pediat Dept, Resp Unit, IRCCS, I-00165 Rome, ItalyBambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, Italy
Cutrera, R.
Picardo, S.
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Bambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, ItalyBambino Gesu Pediat Hosp, DEA ARCO Dept, Pediat Intens Care Unit, IRCCS, I-00165 Rome, Italy
机构:
Ann & Robert H Lurie Childrens Hosp Chicago, Pediat, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, Pediat, Chicago, IL 60611 USA
Warner, J.
Zelko, F. A.
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Ann & Robert H Lurie Childrens Hosp Chicago, Pediat, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, Pediat, Chicago, IL 60611 USA
Zelko, F. A.
Weese-Mayer, D. E.
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Lurie Childrens Hosp, Pediat Auton Med, Chicago, IL USAAnn & Robert H Lurie Childrens Hosp Chicago, Pediat, Chicago, IL 60611 USA
机构:
North Shore LIJ Hlth Syst, Zucker Hillside Hosp, Dept Psychiat, New York, NY 11030 USA
Hofstra Sch Med, New York, NY USANorth Shore LIJ Hlth Syst, Zucker Hillside Hosp, Dept Psychiat, New York, NY 11030 USA
Grudnikoff, Eugene
Foley, Carmel
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North Shore LIJ Hlth Syst, Zucker Hillside Hosp, Dept Psychiat, New York, NY 11030 USA
Hofstra Sch Med, New York, NY USANorth Shore LIJ Hlth Syst, Zucker Hillside Hosp, Dept Psychiat, New York, NY 11030 USA
Foley, Carmel
Poole, Claudette
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Hofstra Sch Med, New York, NY USA
North Shore LIJ Hlth Syst, Dept Pediat, Steven & Alexandra Cohen Childrens Med Ctr New Yo, New York, NY USANorth Shore LIJ Hlth Syst, Zucker Hillside Hosp, Dept Psychiat, New York, NY 11030 USA
Poole, Claudette
Theodosiadis, Eva
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North Shore LIJ Hlth Syst, Zucker Hillside Hosp, Dept Psychiat, New York, NY 11030 USA
Hofstra Sch Med, New York, NY USANorth Shore LIJ Hlth Syst, Zucker Hillside Hosp, Dept Psychiat, New York, NY 11030 USA
机构:
Ann & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Stanley Manne Childrens Res Inst, Chicago, IL USA
Northwestern Univ, Feinberg Sch Med, Chicago, IL USAAnn & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Carroll, Michael S.
Patwari, Pallavi P.
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机构:
Ann & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Northwestern Univ, Feinberg Sch Med, Chicago, IL USAAnn & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Patwari, Pallavi P.
Kenny, Anna S.
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机构:
Ann & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Kenny, Anna S.
Brogadir, Cindy D.
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机构:
Ann & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Brogadir, Cindy D.
Stewart, Tracey M.
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Ann & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Stewart, Tracey M.
Weese-Mayer, Debra E.
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机构:
Ann & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
Stanley Manne Childrens Res Inst, Chicago, IL USA
Northwestern Univ, Feinberg Sch Med, Chicago, IL USAAnn & Robert H Lurie Childrens Hosp Chicago, CAMP, Chicago, IL 60611 USA
机构:
Univ Tennessee, Hlth Sci Ctr, Coll Grad Hlth Sci, Memphis, TN USAAnn & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Victor, A. Kaitlyn
Barclay, Sarah F.
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机构:
Univ Calgary, Alberta Childrens Hosp Res Inst, Calgary, AB, CanadaAnn & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Barclay, Sarah F.
Benson, Leslie A.
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Boston Childrens Hosp, Dept Neurol, Boston, MA USAAnn & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Benson, Leslie A.
Slattery, Susan M.
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机构:
Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Northwestern Univ, Feinberg Sch Med, Dept Pediat, Chicago, IL 60611 USA
Ann & Robert H Lurie Childrens Hosp Chicago, Stanley Manne Childrens Res Ctr, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Slattery, Susan M.
Rand, Casey M.
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机构:
Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Ann & Robert H Lurie Childrens Hosp Chicago, Stanley Manne Childrens Res Ctr, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Rand, Casey M.
Kurek, Kyle C.
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h-index: 0
机构:
Univ Calgary, Alberta Childrens Hosp Res Inst, Calgary, AB, CanadaAnn & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Kurek, Kyle C.
Weese-Mayer, Debra E.
论文数: 0引用数: 0
h-index: 0
机构:
Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA
Northwestern Univ, Feinberg Sch Med, Dept Pediat, Chicago, IL 60611 USA
Ann & Robert H Lurie Childrens Hosp Chicago, Stanley Manne Childrens Res Ctr, Chicago, IL 60611 USAAnn & Robert H Lurie Childrens Hosp Chicago, Ctr Auton Med Pediat CAMP, Div Auton Med, Chicago, IL 60611 USA