Macular retinal detachment in Hallermann-Streiff syndrome.
نویسندگان
چکیده
symmetric changes, and lack of symptoms, we suspected a metabolic storage disorder. Laboratory test results showed normal levels of -galactosidase, arylsulfatase A, hexosaminidase A and B, and -galactocerebrosidase.However, sialic acid levelswere elevated in the urine. Examination results of a skin biopsy specimen revealed a fibroblast -neuraminidase level of 0.5 nmoles/h per milligram of protein (reference range, 15.0-30.0 nmoles/h per milligram of protein). Based on these findings, a diagnosis of sialidosis (mucolipidosis type I) was made.
منابع مشابه
Hallermann-Streiff syndrome.
OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies ...
متن کاملHallermann Streiff Syndrome-The Oral Manifestations in a Child
Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair, eye abnormalities, dental defects, atrophic skin changes and a proportionate short stature. Here we discuss a case of 9 years-old female child who presented with abnormal facial features, dental problems and associated cardiac pro...
متن کاملA familial study of Hallermann–Streiff–François syndrome
Hallermann-Streiff-François syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of growth retardation, ocular abnormalities, and a "bird-like head". We hereby report a case of this syndrome found in three generations of the same family - father, daughter, and grand-daughter - who presented with a short stature and facial dysmorphic features, nystagmus, cataract...
متن کاملUltrasound biomicroscopic findings in hallerman-streiff syndrome.
PURPOSE To demonstrate the usefulness of ultrasound biomicroscopy in detecting the morphological changes in the lens caused by the spontaneous absorption of lens material and to detect fundus abnormalities in a patient with Hallermann-Streiff syndrome. METHODS Case report of an infant diagnosed at the age of 2 months as having Hallermann-Streiff syndrome. RESULTS Spontaneous lens absorption...
متن کاملHallermann-Streiff Syndrome: a case report from Turkey.
Hallermann-Streiff Syndrome (HSS) is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 50-80 percent of cases. The first description seems to have been made by Aubry in 1893. HSS was first described completely in 1948 by Hallermann, and then in 1950 by Streiff. We report a 4-year-old girl with HSS, presenting oro-dental characteris...
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ورودعنوان ژورنال:
- Archives of ophthalmology
دوره 126 2 شماره
صفحات -
تاریخ انتشار 2008