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8 výsledky
Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome.
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We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of
Pseudotumor cerebri in a pre-pubescent child--case report.
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BACKGROUND
Pseudotumor cerebri (PT) is a disease characterized by elevated intracranial pressure with no apparent etiology. A majority of cases of PTC occur in adults, with a distinct predilection for obese women of childbearing age. On rare occasions, PTC will affect children and is associated with
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome.
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Duane's retraction syndrome (DRS) includes changes in palpebral fissure width along with restriction of ocular motility. Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, polydactyly and renal abnormalities. We report a case of rare
Vitamin B1 in the treatment of Wernicke's encephalopathy due to hyperemesis after gastroplasty.
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Wernicke's encephalopathy (WE) is a severe brain disorder, first described in 1881, and is caused by a nutritional deficiency of thiamine (vitamin B1) found mostly in patients suffering from chronic alcoholism. In addition, WE can also complicate bariatric surgery if adequate vitamin supplementation
Cushing's syndrome due to ectopic production of corticotropin-releasing hormone in an infant with ganglioneuroblastoma.
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OBJECTIVE
To report the first recognized case of Cushing's syndrome due to a corticotropin-releasing hormone (CRH)-secreting ganglioneuroblastoma, which was found in an 18-month-old boy with hypertensive encephalopathy.
METHODS
The clinical, biochemical, and immunohistochemical characteristics of
Ophthalmologic features of Prader-Willi syndrome.
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Forty-six patients with Prader-Willi syndrome were examined to determine the incidence and character of ocular abnormalities. All patients met clinical criteria for this syndrome including infantile hypotonia, hypogonadism, truncal obesity, intellectual impairment, dysmorphic facies, and short
An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome.
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Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed
Idiopathic intracranial hypertension in prepubertal pediatric patients: characteristics, treatment, and outcome.
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OBJECTIVE
To report the features of idiopathic intracranial hypertension in prepubertal children, with emphasis on presentation, treatment, and outcome.
METHODS
We retrospectively reviewed the charts of all patients 11 years and younger diagnosed with idiopathic intracranial hypertension at two
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