The clinical spectrum of α‐L‐iduronidase deficiency

Roubicek, M; Gehler, J.; Spranger, Jürgen W.; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320200308

Cited by 53 publications

(36 citation statements)

References 32 publications

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“…The mean age at diagnosis of MPS II was 2.47 years, after the appearance of inguinal hernia in some patients. In a similar review of the clinical manifestations of MPS I, the frequency of inguinal hernia was 33% and 30% of patients had both umbilical and inguinal hernia [66]. Inguinal hernia is also apparent in other types of MPS including MPS VII [67].…”

Section: Mucopolysaccharidoses: Hurler Syndrome (Omim 607014)/hunter mentioning

confidence: 97%

Looking past the lump: genetic aspects of inguinal hernia in children

Barnett

Langer

Hinek

et al. 2009

Journal of Pediatric Surgery

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Section: Mucopolysaccharidoses: Hurler Syndrome (Omim 607014)/hunter mentioning

confidence: 97%

Looking past the lump: genetic aspects of inguinal hernia in children

Barnett

Langer

Hinek

et al. 2009

Journal of Pediatric Surgery

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“…The impish face, receding chin, mild mental and skeletal involvement, and severe heart disease correspond to phenotype I suggested by Roubicek et al (1985). Corneal opacities were not suspected clinically but abnormal fine granularity was found on slit-lamp examination.…”

Section: Discussionmentioning

confidence: 87%

“…Biochemical differentiation between types 1H, 1H1S and IS has proved difficult (see Mueller et al, 1984, andRoubicek et al, 1985, for bibliography) although Fujibayashi et al (1984) (1987) have described a phenotypically normal obligate heterozygote for Hurler syndrome with very low levels of a-L-iduronidase activity with normal substrate affinity (Km) but reduced catalytic activity (V max); this may complicate prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 98%

Hurler-Scheie Phenotype Associated with Consanguinity

Davies

Dutton

Farquharson

et al. 1989

Studies in Inherited Metabolic Disease

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Both Hurler(lH) and Scheie(lS) diseases (McKusick 25280) are caused by a deficiency of a-L-iduronidase (EC 3.2.1.76). To explain their widely different phenotypes McKusick et al. (1972) suggested that the abnormal genes Hand S are allelic. A compound form was postulated (HIS) and at least 33 such cases have been reported (Roubicek et al., 1985). Amongst such HIS compound cases the frequency of parental consanguinity should be no higher than in the general population. However, five instances of parental consanguinity amongst HIS cases have been reported suggesting a third allelic mutant. We describe a further case with HIS phenotype whose parents were related. PATIENTA 15-year-old girl, whose parents were first cousins once removed, presented with symptoms of tiring easily, stiff joints, frequent colds, breathlessness on exertion, post-exertional muscle stiffness, difficulty in wearing teenage skirts and poor eyesight. Past medical history included operations for congenital dislocation of hip (age 2 years), umbilical hernia (age 6) and grommets in both ears (age 8). Investigations elsewhere for mild 'spasticity' in the legs (age 10) had shown a normal CT scan of head, normal myelogram and slightly raised CSF protein content (80mgdL-l). Menarche had occurred at the age of 11 years and her periods had been regular.On examination (Figure 1) she had hypertelorism, a short neck, pixielike facies with receding chin and short stature (144cm; -3 SD). Genital and axillary hair was sparse; breast development was normal. There was clinical evidence of aortic stenosis, hepatomegaly (down to level of anterior superior iliac spine), conductive deafness, lumbar lordosis, genu val gum and severe restriction of all movements of shoulders. Reflexes in the legs were brisk but there was no gross spasticity or muscle weakness and plantar reflexes were flexor. Sensation was intact. Blood pressure was 98178. Corrected visual acuity was 6112 (R) and 6/18 (L). Bilateral swelling of optic disc margins was present with a focal intra-retinal infiltrate present below the left disc. The cornea appeared clear.

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“…The polyps are hamartomas and benign in nature. However, PJS patients are reported to have between a 47-93% of developing any cancer before the age of 65 [6]. Common cancers reported in the literature are cancers of the small intestines, stomach, pancreas, esophagus, colon, lung, breast, ovaries, uterus and gall bladder.…”

Section: Discussionmentioning

confidence: 99%

Clinical Manifestations of Precocious Puberty and Associated Heritable Diseases: A Case Report

Milgraum¹,

Allawh²,

Moon³

et al. 2017

J Clin Exp Dermatol Res

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The incidence of sexual precocity is 1:10,000, yet previous puberty is infrequently reported. We report a unique case of a young child presenting to the Dermatology clinic for management of acne vulgaris and precocious puberty prompting further work-up to evaluate for McCune Albright Syndrome. While primarily idiopathic, we discuss the associated dermatologic conditions that should be considered in the differential diagnosis, including partial congenital adnexal hyperplasia, Carney Complex, Cushing Syndrome and others when presented with a patient with precocious puberty.

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The clinical spectrum of α‐L‐iduronidase deficiency

Cited by 53 publications

References 32 publications

Looking past the lump: genetic aspects of inguinal hernia in children

Looking past the lump: genetic aspects of inguinal hernia in children

Hurler-Scheie Phenotype Associated with Consanguinity

Clinical Manifestations of Precocious Puberty and Associated Heritable Diseases: A Case Report

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