Журнал «Здоровье ребенка» 8 (51) 2013

The child K. 10-months-old was admitted to the Kharkiv Regional Clinical Children Hospital № 1 23.01.12 with complaints: polydipsia, polyuria, pollakiuria (abundant urination up to 1.2 liters in 24 hours), itching of the skin, weight loss, retardation of psychomotor development.

It was known from the anamnesis that the child was born from III pregnancy, II delivery. Pregnancy had the threat of failure in term 22 and 30 weeks of gestation. Delivery was by caesarean section in 33 weeks of gestation, Apgar score 3–5 marks, birth weight 2650.0 g, body length 43 cm, head circumference 29 cm, chest circumference 27 cm. The child was on breast-feeding up to 3 months, then he was transferred to artificial feeding by the adapted mixture. The child had weak sucking since the first days of life, had regurgitation and vomiting periodically, poor weight gain, delayed the psychomotor development.

The child was examined in the surgical department of the Kharkiv Regional Clinical Children Hospital № 1. The esophageal-gastric reflux, pyloric stenosis? was suspected. The surgical pathology was excluded during investigation.

During repeated admission the child's condition was estimated as serious due to neurological disorders, metabolic decline, cachexia, hypothermia. It was marked symptoms of craniofacial dysostosis (Crouzon’s syndrome): deformation of the skull — brachycephaly, prominent forehead, exophthalmus, hypertelorism of eyes, bill-shaped nose, micrognathia, progeny. Severe retardation of psychomotor development was marked: the child was not keep his head, can’t sit, did not give a response of vivacity to the contact, did not respond to external stimuli. The child was sucking water greedily. The skin and visible mucous membranes were pale, scratching on the skin of the chest and abdomen was presented. Subcutaneous fat layer was absent. Turgor and elasticity of the tissues were reduced. The puerilnoe breath was determined during auscultation of the lungs. Respiratory rate 35 per 1 minute. The heart sounds were arhytmic, systolic murmur was presented on the apex of the heart, its spread in the axillar region and back. Heart beat rate was 120 per 1 minute. BP 92/56 mmHg. The abdomen was soft, liver was palpated on 1 cm below the costal margin, the spleen was not palpated. The urination was frequent up 20 times per 24 hours, abundant. The stool was yellow, pasty, without pathological admixture up to 2–3 times a day.

Child was counseled by professor of the Department of Pediatrics propaedeutics KhNMU, the neurologist, pediatric surgeon, neurosurgeon, endocrinologist, geneticist, ophthalmologist, dermatologist. The differential diagnosis is carried out between the organic injury of CNS due to intrauterine hypoxia and birth asphyxia, congenital disorders of the endocrine system (the dysfunction of the adrenal cortex, diabetes insipidus, polyglandular endocrine failure), leprechaunizm, congenital disorders of metabolism, intrauterine infections.

The clinical and laboratory-instrumental investigations were done.

Blood test result: Hb 98–90 g/l, formula blood cells was normal, analysis of the urine — without inflammatory changes, Zimnitskiy test — polyuria (900.0 ml per 24 hours), hyposthenuria and isosthenuria (specific gravity 1001–1005).

The level of insulin in the blood, 17-OH-progesterone, STH, TSH, T4 — in normal range. PCR for herpes 1, 2, 6 types, CMV, toxoplasma — negative. The child was examined by an endocrinologist, diabetes insipidus was diagnosed, H-desmopressin was prescribed. Trial with H-desmopressin regarded as positive.

Conclusion of ophthalmology — congenital cataracts in both eyes. MRI of the brain revealed periventricular sclerosis lesions. Data of investigation permit to exclude adrenogenital syndrome, leprechaunizm.

The antibacterial, cardio-nootropic, antifungal, gastroprotective, inhibitors of proteolysis, H-desmopressin, hepatoprotectors, vitamin complexes therapy, hemostatic. The child was partial parenteral nutrition, correction of electrolyte metabolism disorders, metabolic disorders was done by intravenous therapy.

The severity of condition of the child has increased in the dynamics of observation. The autonomic disorders — hypothermia, disruption of the cardiovascular and respiratory systems, bradypnoe, bradyarrhythmia has appeared.

The child transferred to the intensive care unit, artificial lung ventilation has started.

Development of symptoms of intravascular blood coagulation has marked, stool was mixed with blood. Condition remained to be highly unstable and 10.02.12 the child came efficient circulatory arrest. Conducted resuscitation was not effective and the child has died.

The final clinical diagnosis:

Essential: organic — residual affection of CNS resulting of hypoxia and asphyxia in the perinatal period, syndromes of liquor-hypertensive, movement disorders, delayed psychomotor development, diabetes insipidus, hypothalamic.

Complications: сachexia, syndrome polyorganic insufficiency, erosive-ulcerative gastroduodenitis, anemia of mixed origin.

Concomitent diagnosis: Crouzon’s syndrome, congenital heart disease — open ductus arteriosis. Cataracts in both eyes.

Pathomorphological diagnosis: multifocal infiltrative astrocytoma of the brain, mixed morphological type, with damage the lateral ventricles subependimarnic parts of the brain and its gray tuberculum (suprosellar-chiasmatic area). Microcyst of pocket Ratko of intermediate zone of the pituitary gland.

Complication: diabetes insipidus, I form. Cachexia (body weight 10-months-old child 4100.0 g, height 67 cm). Acute ulcer duodenal bulb with penetration into the zone of the pancreatic head. Massive intraintestinal bleeding. Edema — swelling of the brain.

Concomitent diagnosis: Craniofacial dysostosis, part type, with marked hypertelorism, gothic palate.

The difference between clinical and pathomorphological diagnosis of the main disease is present. Reason for the difference is the objective difficulties of diagnosis due to the lack of informative CT results.

Code of diagnosis according to ICD-10: tumor of chiasmal areas of the brain C 71.8

Thus, according to pathomorphology inveastigation the essential disease is multifocal infiltrative astrocytoma with affection of subependimarnic parts of the lateral ventricles of the brain and its gray tubercullum. Tumor lesion of gray tubercullum caused the development of diabetes insipidus with progressive cachexia, water-electrolyte disturbances that contributed to the development of multiple organ dysfunction.

At the end the acute penetrating ulcers of duodenum has developed on this background. The massive intraintestinal bleeding formed a multi-organ failure finally, which caused the death.

Multifocal nature of the tumor lesion in subependimarnic areas of the ventricles, as well as gray tubercullum ( in the areas of localization of the preceding embryonic glial cells) may indicate violations of the differentiation of glial cells. An early manifestation of the disease is associated with damage to suprasellar-chiasmal area what caused manifestations of the diabetes insipidus.