ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION Cahide Yılmaz 1 , Hüseyin Çaksen 1 , Nebi Yılmaz 2 , Ahmet Sami Güven 1 Derya Arslan 1 , Yaşar Cesur 3 Yüzüncü Yıl University, Faculty of Medicine, Departments of Pediatric Neurology 1 , Neurosurgery 2 and Pediatric Endocrinology 3 , Van, Turkey Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus. A 6-year-old girl was admitted with aphasia, deafness, strabismus, abdominal distention, and weakness on the right body side. The physical and laboratory examination revealed psychomotor retardation, right hemiparesis, sensorioneural hearing loss, aphasia, eye and teeth abnormalities, hyperpigmentation, truncal obesity, hepatosplenomegaly, severe iron deficiency anemia, delayed bone age, and cerebral hemiatrophy. Based on these abnormal findings she was diagnosed as AS. According to our knowledge this is the first case of AS with cerebral involvement. This last finding may be a component of the syndrome. Key words: Alström syndrome; brain involvement, case report Eur J Gen Med 2006; 3(1):32-34 INTRODUCTION to the hospital, respectively. The patient Alström syndrome (AS) is a rare autosomal was born by vaginal delivery after a 40- recessive inherited disorder (1), characterized week uncomplicated pregnancy, but her by retinal degeneration, progressive hearing developmental milestones were retarded. She impairment, truncal obesity and non-insulin began to hold the head on the 10th month of dependent diabetes mellitus. It may also age and sit without support on the 18th month include acanthosis nigricans, alopesia, short of age and to walk on the 3 rd year of age. stature, cardiomyopathy, abnormal liver and There was a second degree of consanguinity renal functions, bone-muscle disorders and between the parents. She had healthy three metabolic and endocrinological abnormalities brothers and three sisters. However, her one (1, 2, 3, 4). Since the first description of the younger sister who had similar abnormal syndrome in 1959, there have been fewer than findings including congenital aphasia and 100 reported cases in the world (3). deafness, generalized hyperpigmentation on In this paper, we reported a case of skin and truncal obesity died when she was AS with left cerebral hemiatrophy. To our 3-year-old. knowledge this is the first case of AS with The weight and height were 19 kg (25- cerebral involvement in the literature. 50 percentile) and 101 cm (below the 3 rd percentile), respectively. The body mass index CASE was 18.8 kg/m 2 . The physical examination A 6-year-old girl was admitted with showed generalized hyperpigmentation on aphasia, deafness, strabismus, abdominal skin, truncal obesity, mild psychomotor distention, and weakness on the right body retardation, right hemiparesis, sensorioneural side. She had aphasia and deafness since hearing loss and aphasia, but no acanthosis the birth. Strabismus/abdominal distention nigricans or polydactyly. An ophthalmologic and right hemiparesis were first noted three examination documented hypermetropia, years and three months before admission alternate esotropia and bilateral peripheral Correspondence: Cahide Yılmaz, MD Yüzüncü Yıl University, Faculty of Medicine, Department of Pediatric Neurology, Van/Türkiye Tel: 904322176128 Fax: 904322150479 E mail: cahideyilmaz@yyu.edu.tr
Alström syndrome with cerebral hemiatrophy 33 retinal degeneration. resistance in this disease is not understood. Gingivostomatitis, flattened papilla on Investigators have reported normal insulin- the tongue, and yellow-brown discolored mediated RNA synthesis in the patients, enamel bands of the anterior teeth were suggesting a postreceptor defect in AS (2). noted. Cardiac examination showed II/VI Growth hormone deficiency has been degree systolic murmur on the mesocardiac reported in AS (5). It has been suggested that focus. She had five centimeters hepatomegaly resistance to several polypeptite hormones and two centimeters splenomegaly. Deep including insuline, vasopressin, gonadotropins tendon reflexes were brisk on all extremities. and growth hormone might be responsible for The remaining of the physical findings were some aspects of the disease (2). normal. The basic pathology of retinal degeneration Laboratory investigation revealed normal in this syndrome is open to debate (2). All urinary analysis. Hemoglobin was 2.9 g/dL; reported patients usually have nistagmus leukocyte count 5,740/mm³; platelet count by one year of age and photophobia is 380,000/mm³; reticulocyte count <%1; common. Vision usually is severely impaired and erythrocyte sedimentation rate was 27 in patients younger than one year of age, mm/h. Serum electrolytes, renal and liver and the symptoms may be confused with function tests including serum triglyceride, those of Leber’s congenital amaurosis or cholesterol and ceruloplasmin were normal. achromatopsia. The patients with AS cited in Serum iron level was 15 µg/dl (N: 22-184 the literature generally have a visual acuity of µg/dl); iron binding capacity >699 µg/dl (N: less than 6/60 by 10 years of age(5). 250-400 µg/dl); and ferritine <1.5 ng/ml (N: Liver involvement in Alström syndrome 7-140 ng/ml). Serum thyroid function tests, was first described by Connolly et al. adrenocorticotrophic hormone and prolactine Their 11-year-old patient developed levels, and glucose tolerance test were all hepatic dysfunction at age 8 (6). No viral, within normal ranges. Serum insulin level was autoimmune, or metabolic etiology was 56.6 µIU/ml (N: 6-27 µU/ml) and C-peptide idendified (7). Multiorgan involvement, as >7 ng/ml (N: 0.9-4 ng/ml). Serum insulin seen in AS, is characteristic of mitochondrial growth factor-binding protein-3 was 1.2 µg/ disorders. In previous reports, AS showed no ml (N: 1.3-5.6 µg/ml) and insulin growth ultrastructural mitochondrial abnormalities, factor-1 level was 12.4 ng/ml (N: 52-297 ng/ but slight mitochondrial pleomorphism in ml). a liver biopsy. This does not exclude all Growth hormone response to clonidine primary mitochondrial disorders, especially and L-Dopa stimulating tests was found to be those related to enzyme defects in the decreased. Hepatitis markers, viral serology pathways different from the respiratory chain including TORCH, Ebstein-Barr virus and (8). Our patient had normal liver functions, parvovirus and salmonella and brusella but hepatosplenomegaly was present. agglutination tests were unremarkable. Serum Generally, moderate sensorineural immunoglobulin levels were normal. Bone deafness is detected within the first decade marrow examination was consistent with (2). In the literature, one study reported onset iron deficiency anemia. The result of blood of hearing defect at 5 to 12 year of age (5). and urine cultures was negative. Her bone Individuals with this syndrome may resemble age was four-year-old. Thorax radiography some other genetic disorders, like Laurence- and echocardiographic examination was Moon or Bardet-Biedl syndrome, with some normal. Abdominal ultrasound showed common characteristics such as obesity, hepatosplenomegaly. hearing loss, retinitis pigmentosa, and age of Computerized tomography (CT) of brain blindness onset (2). Our patient had deafness; showed left cerebral hemiatrophy (Figure however brain stem auditory response could 1). Brain stem auditory response could not not be performed. Mental functions were be performed, unfortunately. Based on the stated to be normal in previously reported above mentioned clinical and laboratory cases of Alström syndrome (2). Evaluating findings, the patient was diagnosed as AS. intelligence in individuals with deafness is She was discharged from the hospital without difficult, and pseudo-retardation might be treatment, but genetic counseling was given detected due to other handicaps. to the parents. In the literature oral findings were described in two cases of AS. In both cases, DISCUSSION gingivitis was present and also light yellow- The molecular basis of the insulin brown discolored enamel bands were observed
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