Case Report from Romania

Cristina Maria Mihai, Doina Catrinoiu

We present 2 patients with Alstr_m Syndrome (age 21 and 16). The first sign noted in boy during his infancy, at 5 months, was the presence of nystagmus. He developed early loss of central vision with severe infantile retinal distrophy, progressive, with no light perception by age 15. Associated findings: blindness, diabetes mellitus (insulin-resistant), dilated cardiomyopathy, and several metabolic abnormalities (liver enzymes, elevated gamma-glutamyltransferase, elevated gamma-globulins, elevated BUN, creatinine, uric acid, elevated serum triglycerides, normal cholesterol, elevated HbA1c) lead to the diagnosis of Alström Syndrome.

The first sign, nystagmus, was noted in the second patient, a girl, at 4 months of age. She developed progressive retinal distrophy and blindness at 1 year of age, infantile obesity (16 kgs at 11 months of age), sensorineural hearing impairment at 10 years of age.

NIDDM was diagnosed at age 12, with acanthosis nigricans and obesity. Additional features: reccurent urinary tract infections, high blood pressure, scoliosis, bronchitis, several metabolic abnormalities (elevated liver enzymes, triglycerides, HgbA1c), but with normal renal function. In both patients the treatment was complex, including early intervention for the metabolic disturbances, especially the diabetes (insulin-resistant).

Both patients present with similar features. The most proeminent sign during infancy was the nystagmus. The retinal degeneration was severe, progressive to blindness. Alström syndrome was difficult to recognize in childhood, until the diabetes mellitus developed.

C.T. 2001			2002				2003
06/13 06/21	09/10	09/24	10/11 02/22	06/21	09/10	12/03	06/01
SGPT (U/l) 69_ 77_	75_	54_	78_ 86_	64,9_	82_	79_	59_
SGOT (U/l) 47_ 54_	65_	38	38 50	31	57_	46	40
GGT (U/l) 667_	430_		461_ 210_	367_	180_	228_	140_
ALP (U/l) 186_ 142_				164.2	73	108	98_
LDH (U/l)				429	200
Urea (mg/dl) 89,7_	64_	76_	76_ 79_	91_	103_	53_	98_
Creat (mg/dl) 1,4_	1,3	0,89	0,89 1.4_	2.3_	1,7_	1,8_	1,7_
Uric A (mg/dl)7,5_	4,1		8.8_	7.5_	7,7_	9_	9,1_
B Gluc (mg/dl)459_	220_		78	147_		141_	126_
T Chol (mg/dl)218	200		183 211	216		177	181
HDL (mg/dl) 183	57
LDL (mg/dl)	48
Trygl (mg/dl) >1716_	479_		389_ 190_	414_		260_	282_
HbA1c % 19,7_	10,9_		8,8_ 6.6	10.2_	7	8,5_	8_
Hb (g/dl) 13,1		14	14				13,1
WBC (cmm) 7,1		7600	7600				6600
PLT x 1000 286		292	292				244
Ca (mg/dl) 9,8	10,1		9,5
Lipids Total			816 mg/dl_
Gamma glob %30.5_				12

U.A. 2001 2002

0.7/24 10/15 11/20 09/09 10/14 12/16

SGPT (U/l) 78_ 158_ 98_ 88_ 120_ 154_

SGOT (U/l) 77_ 57_ 44 172__ 92_ 80_

GGT (U/l) 117_ 214_ 220_ 114_ 146_ 111_

ALP (U/l) 170 187 146

LDH (U/l) 478

Urea (mg/dl) 27 21.4 28.9 32.1 43.6 25.1

Creat (mg/dl) 1 1 1.12 1.08 1.11

Uric A(mg/dl) 4.7 4 6 6.27 5.11 5.46

B Gluc(mg/dl) 153_ 221_ 138_ 194_ 200_ 183_

T Chol(mg/dl) 186 209 227 203 262_ 177

Trygl (mg/dl) 556_ 523_ 503_ 755_ 763_ 492_

HbA1c% 8.1_ 7.5_ 8.8_

Hgb (g/dl) 12.5 13.2 14.2 13.3 14.2

WBC (cmm) 11400 10200 12900 10000 9400

PLTx1000 294 315 232 255 241

Ca(mg/dl) 10.3 9.9