Patient, female, 6 years old (21kg).
Our patient was referred to a paediatric gastroenterologist by the specialist in dermatology. Multidisciplinary examination (endocrinologist, rheumatologist, allergist, hematologist, ophthalmologist, neurologist, dentist, geneticist) was performed.
From the age of 4 years, patient presented rashes on the face, of undetermined etiology. During 2 years, she received repeated treatment, by the dermatologist and allergist, in different institutions, with incomplete improvement. Dermatology specialist diagnosis was Juvenile Acne. Folliculitis. Blepharitis.
Life history without peculiarities, physical and neuropsychological development according to age. From the age of 3-4 years, the appearance of rashes on the face, progressively and premature tooth decay, at the age of 5 years- total lack of upper incisors. There are no cases of celiac disease in the family.
At the present visit our patient has the folowing complaints – acne on the face, periodic abdominal pain, early satiety, halitosis, lack of upper incisor teeth, blepharoconjunctivitis. At the examination, the child is active, sociable. The skin is pale with rashes on the face. Normal peripheral lymph nodes. Gastrointestinal system – saburral tongue, dental caries, on the palpation moderately sensitive in the epigastrium. The liver, spleen are not enlarged. Normal daily stool. Respiratory, cardiovascular and urogenital system without peculiarities.
Lab tests – Blood count (HGB 100g/l, RBC 3.2, WBC 4.8, nsg 11%, sgm 49%, eoz 8%, lymph 30%, mon 2%, ESR 5mm/h), normal biochemical and urine tests. Ultrasonography examination – reactive changes in the liver, spleen. Moderate pyeloectasis on the right. FEGDS – Reflux esophagitis gr. I. Erythematous gastroduodenopathy, H pylori negative.
Deamidated anti-gliadin, DGP IgA – 0.36 (N 0-0.3) kU / L
Deamidated anti-gliadin, DGP IgG – 4.6 (N 0-0.3) kU / L
Tissue transglutaminase, tTG IgA – 0.38 (N 0-0.3) kU / L
Tissue transglutaminase, tTG IgG – 0.42 (N 0-0.3) kU / L
Established diagnosis (2018) – Celiac disease, atypical form. Juvenile acne. Carential anemia gr. I. Chronic blepharoconjunctivitis. Dental caries.
Reccomentation – Gluten-free diet. Anemia correction, dental caria treatment.
Reassessment 2019 – dry facial skin, without rash.
Blood count – HGB 112g/l, RBC3,5, WBC 7,6, nsg 11%, sgm 41%, eoy 3%, limf 40%, mon 5%, VSH 14mm/h.
Thyroid USG – no peculiarities.
Total thyroxine T4 – 8.0 (N 4.8-11.6)
Thyrotropin TSH – 1.5 (N 0.3-4.0)
Antibodies TG 94.4 (N ˂125)
TPO antibodies 132.7 (N ˂40)
Established diagnosis (2019) – Celiac disease, atypical form. Autoimmune thyroiditis with compensated hypothyroidism.
Recommendations (2019) – gluten-free diet. Endocrinological evaluation after 6 months.
Reassessment 2020 – no compliance.
USG uterus and ovaries – hypoplasia of the uterus and ovaries grade II-III.
TPO antibodies – 707 (N˂40).
Established diagnosis (2020) – Celiac disease, atypical form. Autoimmune thyroiditis with compensated hypothyroidism. Hypoplasia of the uterus and ovaries II-III degree.
Recommendations (2020) – gluten-free diet. L- Thyroxine 25mcg, daily.
It is recommended to repeat TSH, T4 – after 4 month.
The photos are placed with the patient’s consent.