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ECPB 2015, 69(1): 83–87
https://doi.org/10.25040/ecpb2015.01.083
Assisting a doctor

Cerebrotendinous xanthomatosis in adults: clinical case

TROTSENKO O., KYSELCHUK N., TSYMBRAK A.
Abstract

Patient M., born in the year of 1987 (25 years old), entered the therapy department of Clinical Hospital № 5 in Lviv with complaints of drowsiness, recurring headaches and dizziness.

Medical history. The patient suffers from infantile cerebral palsy and belongs to the 3rd group of disability since his childhood. During the last two months a decrease in physical activity, increased appetite, weight gain are observed. Two weeks before admission to the hospital the patient had observed increase in blood pressure 160–170/70-80 mm Hg. Born as a result of 1 premature pregnancy; birth with the help of forceps. During the neonatal period: 1st degree of asphyxia, morphofunctional immaturity, hand paresis, cephalhematoma. Further – delayed physical and psychomotor development. Ability to speak since 3 years old. Stigmas: hypertelorism, bradydactyly, optic atrophy, strabismus of the right eye, low growth.

Burdened Heredity: brother died at the age of 17; suffered from infantile cerebral palsy with delayed psychomotor and speaking development, stigmas of dyzembrygenesis: strabismus of both eyes, 0 atrophy, hypertelorism, epicanthus, gothic palate, attached earlobes, transverse crease on the right palm, a wide gap between 1 and 2 toes. Physical examination. Body weight 76 kg. Height 155 cm. BMI – 31.6. The patient's condition on admission is fair. Consciousness is clear. On the forearm skin, upper shoulder, abdomen, front surface of the thorax, achilles tendons tuberous and flat small xanthomas are revealed. Cardiac rhythm is 110 seconds a minute. The pulse 110s a minute. AT 160/70 mm Hg. The respiratory rate – 20s a minute. Breathing is vesicular. Abdomin during palpation is soft and painless. The liver at the edge is palpable below the costal margin is painless. Instable in Romberg test. Right scoliosis of the thoracic spine. Physiological functions are normal.

Additional examination. Blood hemoglobin is 124–114–112 g/l, white blood cells 18,9–16,9–8,4–7,3–14,7·10 g/l. Toxic granulation of neutrophils, ESR 7–12–33 mm/h. Blood glucose: 13,5–8,2–7,2–4,5–3,9–6,7–7,4–4,8 mmol/l. General cholesterol – 2,4 mmol/l, triglycerides – 1,7 mmol/l, very low-density lipoprotein – 0,58 mmol/l, lowdensity lipoprotein – 1,21 mmol/l, high-density lipoprotein – 0,61 mmol/l. Atherogenic risk factor 2,93.

Special examination. With the help of the tandem mass spectrometry method hereditary disorder of aminoacids and acylcarnitines is excluded. Mitochondrial marker – 234 pg/ml (rate of 330 g/ml).

Most likely the patient is suffering from a rare inherited disorder – cerebrotendinous xanthomatosis (autosomal recessive inheritance).

The clinical diagnosis. Accumulation disease: cerebrotendinous xanthomatosis. Encephalomyeloradiculopathy on the background of congenital organic CNS pathology. Cerebral coma 2. Syndrome of mixed apnea/hypopnea. Commutity-acquired bilateral lower lobe pneumonia. Bilateral diffuse purulent bronchit. Second degree and second stage of the arterial hypertension, the risk is high. Right-sided scoliosis of the thoracic spine. Strabismus of the right eye. Optic atrophy of both eyes. First degree of obesity. Pathanatomical diagnosis. Accumulation disease with lesions of the brain and liver. Bilateral massive purulent bronchopneumonia with microabscesses. Focal interstitial myocarditis with focal microabscesses. Common chronic venous plethora of internal organs. Brain swelling. Obesity, medium-symmetric type.

Keywords: hereditary pathology, cerebrotendinous xanthomatosis, internal diseases, adults

Full text: PDF (Ukr) 716K

References
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  3. 3. Clayton P, Verrips A, Mann A, Mieli-Vergani G, Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J. Inherit. Metab. Dis. 2002;25:501-513.
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