Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We compared 23 patients (ages 4 to 18 years) who were receiving long-term oral prednisone therapy with 31 normal controls (ages 7 to 16 years). Indications for corticosteroid treatment included renal transplant in 11 patients, nephrotic syndrome in 7, glomerulonephritis in 4, and vasculitis without renal disease in 1. The mean duration of prednisone therapy was 5.0 +/- 3.5 years, and the mean dose at the time of examination was 0.29 +/- 0.18 mg/kg/day. Mean intraocular pressure was 16.0 +/- 3.0 mm Hg (range, 12 to 25 mm Hg) in the prednisone group and 15.4 +/- 2.1 mm Hg (range, 12 to 20 mm Hg) in the control group. The difference between the means was 0.6 mm Hg (P = 0.35). Posterior subcapsular cataracts were present in seven (30%) of the prednisone patients, but in none of the controls (P = .001). None of the cataracts were visually significant. We found no evidence that pediatric patients on long-term, low-dose prednisone have higher intraocular pressures (IOPs) than normal children, although they are more likely to develop posterior subcapsular cataracts.
J Pediatr Ophthalmol Strabismus
PMID:Ocular implications of long-term prednisone therapy in children. 835 Feb 20

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects; their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency, cardiomyopathy, pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation association with severe gastrointestinal disorder, dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined and the clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types Ia, Ib, Ic, II).
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PMID:[Carbohydrate-deficient blood glycoprotein syndrome]. 1070 Oct 64

We report four patients in a consanguineous family with focal segmental glomerulosclerosis (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or brain atrophy without hiatus hernia. Other characteristic dysmorphic features were convergent strabismus and narrow forehead. One patient had enamel hypoplasia of the upper incisors and deviation of bilateral thumbs to palm side. We could not detect an NPHS2 mutation in this family. We propose that this may be another autosomal recessive syndrome with FSGS and neurological findings.
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PMID:Another autosomal recessive form of focal glomerulosclerosis with neurological findings. 1179 29

Pierson syndrome is a recently described autosomal recessive genetic disorder that presents in the neonatal period with bilateral microcoria and congenital nephrotic syndrome. This report describes a case of Pierson syndrome with an emphasis on the ocular findings.
J Pediatr Ophthalmol Strabismus 2009 Jun 25
PMID:Unique Ocular Findings in an Infant with Pierson (Microcoria-Congenital Nephrosis) Syndrome. 1964 79