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"Child`s Health" 3 (63) 2015

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Clinical observation of a child with Daun syndrome and malabsorbtion glucose – galactose syndrome.

Authors: Kozhemyaka A.I., Zdybskaya E.P., Sirenko T.V., Plakhotnaya O.N., Vyun N.R.
Kharkiv National Medical University
Municipal Health Care institution “Kharkiv Regional Pediatric Clinical Hospital 1, Kharkiv, Ukraine.

Categories: Pediatrics/Neonatology

Sections: Clinical researches

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The child M., the boy, 3 days old, was transfered to the Kharkiv Regional Pediatric Hospital #1, to the neonatal department from the Lozovskoy district hospital with diagnosis: Daun syndrome?, prematurity, gestation age 37 weeks.
Parents: the mother 33 years old, suffered from infertility during 6 years, the father 43 years old, healthy. 
The child was born from the 1st  pregnancy which had threat preterm delivery in the term 16 weeks, had fetus-placental insufficiency and bacteriuria.  Delivery was in the term of 37 weeks, precipitated. The essesment according Apgar score was 7-8 mark. The body mass was 2730 g, length was 49 cm, head and chest circumference were 34 and 32 cm.
The condition of the child at admission was assessed as middle severity due to neurogical disorders and functional immaturity. There were the phenotype signs of  Daun syndrome: flat face, mongoloid eyes, and bilateral transverse fold on the palm of hands. The child was dull, hypodynamic. General muscular hypotony was marked. Oral, spinal, myeloencephal reflexes were weak. The child did not suck. The skin was pale, “marble” pattern of vessels was marked. The subcutaneous tissue was thin, the turgor was decreased. Borders of the heart dullness were normal. The heart tones were clean, systolic murmur in the IV point presented. The heart beat rate was 142 per min. The percutor sound in lungs was clean, puerile breathing was determined during auscultation. Abdomen was soft. The liver was palpated in 1,0 cm below ribs arc, the spleen was not palpated. The stool had the transional character. The body mass was 2632g. Physical development was appropriated age of gestation (from 50% to 70% percentile).
The child was nourished by formule Bellact through the probe according age valum, but he did not increase the weight during first 7 days. Signs of the dyspeptic syndrome – vomiting, frequent liquid stool were appeared. It was interpreted as transition dyspepsy caused by adaptation to the artificial feeding. Differential diagnosis was done with gastroenteritis, but results of the investigation  of the blood, coprograma and bacteriological investigation of the excrement permited to exclude this diagnosis.
The condition of the child was getting worse in spite of treatment. The intensivity of the dyspeptic syndrome has increased: stool became more frequent up to 12-15 times a day, it was yellow, with admixture of water, without mucus. The body mass did not increase.
At the 15th day of life the changes of the skin have appeared: intertrigo   in the region of the natural folds, buttock, hips. The erosions and descvomation of the epitelium was marked on the open parts of the body – the face, head, at the place of fixation a plaster, probe for feeding, cateter “venflon”. It was suspected that thise change of the skin is manifestation of the enteropatic acrodermatitis (Damboe –Kloss’s syndrome), but the investigation of Zink and alcoloid phosphataise in the blood demonstrated their normal contents, what permited to deny supposition.
Taking into consideration clinical symptoms of the disease (diarrhea, progressive hypotrophy), differential dignosis  was done with mucoviscidosis, congenital hypoplasia of pancreas, exudative enteropaty. Results of clinical observation and data of the laboratory – instrumental investigation permitted to exclude these diseases.
The child was represented to genetics from the Kharkiv Medical Genetic Center.
Folowing investigations were done in the MGC: citogenic analysis by method of lymphocytes of the peripheral blood cultivation with use C and G painting, liquid chromatography of the aminoacids of the blood, thin-layer chromatography of the urine carbogidrates, screening tests of the urine. Karyotype 47 XY +21 was determined. The primary disoder of aminoacid metabolism was not exposed. The increased excretion of the galactose, glucose was detected. So, on starting point the manifestation and duration of the disease, results of additional investigations the diagnosis Trisomy 21 (Daun syndrome), regular form, conjential intestinal of glucose and galactose malabsorbtion.
During 3,5 months of treatment in the hospital the condition of the child was getting worse 3 times: first time at the 1-month-old due to the skin affection, second time at the 2-months –old  due to pneumonia, third time at the 3- months –old  due to increase the metabolic disorders: acidosis (pH 7,103), catabolic trend metabolism, prerenal azotemia (increase level urea 14,4 mmol/l(norm 2,0-6,0 mmol/l), creatinine 0,152 mmol/l (norm 0,018-0,035)).
The most significant results of the laboratory-instrumental investigation during time of observation were: the blood count – periodical anemia (Hb 87 – 102 g/l), the protein of the blood 37,0 – 48,8 g/l, the urinalysis – unimportant proteinuria, the coprograma –qualitative reaction (glucotest) for sugar – positive, reaction with bromtymol blue for acidity – acetous, inflammatory signs was not marked, the blood was sterile, excrement investigation for disbacteriosis – without pathology, the ultrasound investigation: the heart – defect of interatrium septum, internal organs without pathology. The blood Na was 158,6 – 131,8 mmo/l, the blood K – 3,78-4,47 mmol/l. .Bblood pH 7,130-7,350, BE -21 - +2, thyroid hormones and sweat test for mucoviscidosis – without deviation from the norm, the immunogram – norm.
The phenotype of the child, the time of manifestation of the intestinal disfunction, the character of the diarrhea, progressive duration of the disease with development of the dehydration, acidosis, hypotrophy as so as the results of the investigation of the child in MGS: peculiarity of karyotype, data of the urine screening, thin-layer chromatogphy of the urine carbohydrates which significated glucose-galactose excretion, results of the laboratory investigation during observation in the hospital: positive test for sugar and acidity in the excrement , blood acidosis, hypernatriemia – permited to put the clinical diagnosis:
Main: Daun syndrome, regular form, congenital heart defect, interatrium septum defect. Syndrome of glucose-galactose malabsorbtion.
Complication: Hypotrophy 3 degree, anemia 2 degree, metabolic nephropathy.
The treatment: diet therapy (formules Bellact Nutrilon without lactose, Nutrilo – malabsorbtion, CRS), transfusion of erythrocytes, thrombocyte mass, antibacterial therapy for treatment pneumonia (cephtriaxon, amicine, metronidosole), kreon, glutargine, vit B1, and B6, loperamid.
The child continues treatment in the neonatal department. Body mass deficiency is 42%, physical development is small for age (<10percentile), retardation of psychomotor development is marked.
The peculiarity of this observation is presence of two congenital diseases: Daun syndrome and primary syndrome of glucose-galactose malabsorbton.
The severity of child condition with Daun syndrome was caused by clinical manifestation of syndrome malabsorbtion glucose-galactose which was accompanied by development dehydration, acidosis, hypotrophy.

Bibliography

1. Abad-Sinden A, Borowitz S. Meyers R., J.Sutphen Nutrition management of congenital glucose – galactose malabsorption: a case study / J.Am Diet Assoc. 1997; 97: 1417-1421.
2. Tasic V, Slaveska N, Blau N, Santer R Nephrolithiasis in child with glucose – galactose malabsorption // Nephrol Dial Transpl. 2004; 19: 2394 – 2396.
3. Nenad Blau, Georg F. Hoffman, James Leonard, Joe T.R., Charke (Edit) Physician`s Guide to the Tretment and Follow up of Metabolic Diseases. Foreword by C.R. Scriver. Springer 2006; 181-187.
4. Wright E M. Glucosae galactjse malabsorption / Am J Physiol Gastrointest Liver Physiol. 1998; 275: 879–882.
5. Borovyk T.E., Ladodo K.S. Klynycheskaya dyetolohyya detskoho vozrasta: Rukovodstvo dlya vrachey 2008; 184.
6. Krasnopol'skaya K.D. Nasledstvennye bolezny obmena veshchestv. Spravochnoe posobye dlya vrachey 2005; 259.

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