Журнал «Здоровье ребенка» 8 (59) 2014

Rare diseases always are a problem of diagnostic at the initial stage of care.  The quantity of such patients is lesser and information about these nosological forms usually is not part of studying of Pediatrics.

Heiner syndrome is hypersensitivity to cow's milk protein (CMP) disease and is characterized by a primary lesion of the lungs. For the first time this syndrome was described by American pediatrician Douglas Craig Heiner in 1960.  There were observed seven children from 6 weeks to 17 months. All children were fed either cow's milk or formulas on basis of cow’s milk. The main clinical signs of disease were symptoms of the respiratory system affection, which started at the age of 1-9 months.  Symptoms included cough, wheezing, dyspnea, hemoptysis and nasal congestion. Some children have been identified recurrent otitis media, recurrent fever, failure to thrive, vomiting, colic, diarrhea, hematochezia. It is typical of aggravated allergy heredity. All had radiologic evidence of pulmonary infiltrates with rapid variability of the localization, size and density of shadows. Milk elimination resulted in remarkable improvement in symptoms, but in some cases radiological signs of pulmonary fibrosis were still present.  

There is an own observation case. The patient K., 2.5 months was enrolled in the Kharkiv Regional Children’s Clinical Hospital #1. Parents have complained that a child had a cough, dyspnea, urticaria, diarrhea, vomiting, weakness, restless sleep, food refusal and poor weight increasing.

From the case history is known that complaints appeared 2 weeks before admission to the hospital. The child was transferred from breastfeeding to feeding cow's milk diluted (1:1) at the age of 1.5 months in connection with mother’s hypogalactia. The condition was progressively worsened, therefore parents appealed to the hospital.

The temperature was 36.6 ° C. The child was conscious with loud and painful screaming, flexor hyper tonus.  Movements were chained; periodically child threw back his head. Tendon reflexes were increased on both sides, horizontal nystagmus was present. Meningeal signs were negative. Swallowing, sucking and cough reflexes were saved. Skin was pale, with "marble" pattern and acrocyanosis when disturbed. There were hyperemia, infiltratation and maceration on the skin of the buttocks, perineum, back of the thighs, legs bright. Eyelids and shins were pastose. Subcutaneous fat wasn’t on the trunk and extremities. Turgor and elasticity of the skin extremely reduced. Mucous was pink, dry, with a whitish cheesy fur on the tongue. Peripheral lymph nodes weren’t palpable. There weren’t visible skeletal deformities, chest was symmetrical. Fontanel was 2.5 ? 2.5 cm below the skull bones. There were expressed tachypnea (breathing rate - 46-48 per minute), mixed type dyspnea. There were tympanic lung sound, both side rales and crackles. O₂ saturation was 96-97 % while breathing with atmospheric air. Cardiac sounds were clean, rhythmic, 128 beats per minute, blood pressure 93/54 mm Hg. Abdomen was soft and available for deep palpation. The liver was palpated by 2.5-3 cm below the costal margin, spleen wasn’t palpable.

Chest roentgenograms showed two side unevenly expressed areas of lung tissue seal in the upper right lung and medial left lung. On the other extent pulmonary drawing was strengthened. Dome of the diaphragm contours was smooth and precise. Heart was without features; cardio-thoracic index – 46%. Radiologist diagnosed bilateral polysegmental pneumonia, recommended to differentiate with congenital disorders of the bronchopulmonary system.

According to the past medical history, the presence of postnatal malnutrition, multisystem disease affection, paraclinical data (anemia, hypoproteinemia, microhematuria, hematochezia, peculiar changes on roentgenograms and computer tomography of the lungs) patient was diagnosed Heiner syndrome.

Child has been assigned to the milk elimination diet (aminoacid formula) – the basis therapy of Heiner syndrome.

Conclusions. Describing the case of the child with Heiner syndrome will increase the level of knowledge about rare clinical forms in pediatrics and improve the health care of such patients.