Phenotype #0000310185
| Individual ID |
00418887 |
| Associated disease |
SLSN |
| Phenotype details |
27y: gait problems, severe pruritus since 10 days prior time of admission; medical history: bilateral cataract, torsional nystagmus, and bilateral optic nerve atrophy since 2 years of age, diagnosed as Leber congenital amaurosis by ophthalmologist; visited by endocrinologist 2 years before admission on nephrology ward due to hypofunctioning state of thyroid gland and started levothyroxine for him; at the same time had pancytopenia/bicytopenia and normal renal function; several months later: hyperfunctioning thyroid state, gait problems, sever pruritus, elevated serum urea and creatinin levels (started hemodialysis); brother: developed intestinal obstruction in postnatal period and then dilated cardiomyopathy and hypothyroidism (started with levothyroxine, death at 5y); patient well-developed, undernourished young male, stable normal blood pressure; eye examination: pale conjunctiva, bilateral blindness, torsional nystagmus; neck: asymmetric thyromegaly with nodularity and (confirmed by neck sonography); cdiac examination: normal except grade II over VI (GII/VI) systolic murmur in apex and left lower sternal border; abdominal examination: no hepatosplenomegaly; patient alert and oriented to time, place and person and had decreased deep tendon reflexes in neurological examination; skin: pale, dry and scaly; diffuse, patchy and brownish discoloration in back; laboratory analysis: pancytopenia (white blood cells: 3.2x103/ ul, hemoglobin: 7.6 g/dl, plt: 130x 103/ul), elevated serum urea and creatinine (200, 10.7 mg/dl), adequate urinary output, serum Na+ and K+: normal (Na+: 138 mEq/l, K+: 4.8 mEq/l); hypocalcemia, hypomagnesaemia and hyperphosphatemia and hyperuricemia: (Ca2+: 5 mg/dl, Alb: 5.1 g/dl, Pi: 5.9 mg/dl, Mg2+: 1.1 mEq/l, uric acid : 7.2 mg/dl); thyroid function test: elevated serum FT4 (54 pmol/l), FT3 (23 pmol/l), decreased TSH (<0.004 mIU/l); urine analysis: microscopic hematuria (red blood cells: 10-12/hpf) and proteinuria (1+): detected; renal sonography: small-sized kidneys [right kidney: 83 mm, left kidney: 84 mm (normal kidney size: 85-130 mm)] without cyst formation; brain magnetic resonance imaging: no molar tooth sign, but mild brain atrophy and small arachnoid cyst; upper gastrointestinal endoscopy: chronic gastritis; echocardiography: 1+ mitral regurgitation; direct ophthalmoscopy: bilateral cataract, pigmentary changes as bony spicule in peripheral retina (retinitis pigmentosa) with optic nerve atrophy and vascular attenuation; underwent hemodialysis and then kidney transplantation 3,5 years ago; currently, kidney allograft function acceptable with serum creatinin of 1.4 mg per dl |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Senior-Loken syndrome (SLSN) |
| Age/Examination |
27y (27 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-10-10 17:17:24 +02:00 (CEST) |
| Date last edited |
N/A |
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