Balkan Journal of Medical Genetics

OSTEOPETRORICKETS IN AN INFANT WITH COEXISTENT CONGENITAL CYTOMEGALOVIRUS INFECTION
Katsafiloudi M, Gombakis N, Hatzipantelis E, Tragiannidis A
*Corresponding Author: Athanasios Tragiannidis, M.D., Ph.D., Assistant Professor of Pediatrics, Pediatric Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of Thessaloniki, S. Kiriakidi 1 str., Thessaloniki, Greece. Tel: +306-944-944-777. Fax: +302-310-994-803. E-mail: atragian@ auth.gr; atragian@hotmail.com
page: 107

CASE PRESENTATION

A full-term 2 and a half-month-old female, the second child of consanguine parents with an uneventful perinatal and neonatal history, was admitted to our clinic due to hepatosplenomegaly, pallor and petechiae noted by their pediatrician at routine check. Upon admission, the infant was afebrile, in a good general condition. Physical examination showed mild growth retardation, hepatosplenomegaly, slightly enlarged anterior fontanelle, abnormal eye movements, mild hypertonia of low extremities. Sporadic petechiae in head, neck and lower abdomen were also noticed. Laboratory findings demonstrated leukocytosis [white blood cell (WBC): 41,350 × 109/L], normocytic normochromic anemia [hemoglobin (Hb) 7.5 g/dL, packed cell volume (PCV) 0.24 L/L, mean corpusucular volume (MCV) 86.9 fL, mean corpuscular Hb (MCH) 28.4 pg, reticulocytes 11.37%] and thrombocytopenia [platelet (PLT) count 46,000 × 109/L]. Coagulation exams, direct and indirect Coombs tests were negative. Serology revealed high levels of alkaline phosphatase (ALP) 1290.0 U/L, lactate dehydrogenase (LDH) 1003.0 U/L, lactic acid (18.0 mmol/L) and ferritin (241.0 ng/mL). Serum calcium (Ca) was in lower limits at 8.2 mg/dL and phosphorus (P) under normal range 2.3 mg/dL, with a Ca × P product of less than 20. Vitamin 25-OH-D level was also low (21.3 ng/mL) and parathyroid hormone was elevated (17.7 pmol/L). Due to high levels of thyroid-stimulating hormone (TSH) (14.10 μIU/mL) indicative of hypothyroidism, the patient was put on levothyroxine therapy. Blood and urine cultures were sterile, stool culture showed normal flora. Infection control was negative for hepatitis B virus (HBV), hepatitis C virus (HCV), hepatitis A virus (HAV), syphilis, rubella, Ebstein Barr virus (EBV) and toxoplasma. The CMV DNA was detected in urine and blood and ganciclovir was administered for 21 days. Metabolic control with measurement of organic acids in urine and amino acids in blood and urine was also negative. Abdominal ultrasound evidenced hepatosplenomegaly, heart and brain ultrasonography were normal. Small, grayish papillae and bilateral optic hypoplasia were noted in fundoscopy. Visual and auditory evoked potentials showed absence of waveform (blindness) and conductive hearing loss, respectively. Due to persistent anemia, thrombocytopenia and leukocytosis, a bone marrow aspiration was performed, which excluded leukemia and revealed T and NK cells immunophenotypic disorders. The karyotype was normal. Radiological findings [osteosclerotic elements in X-rays with “bone within bone” appearance (Figure 1), marked sclerosis within the skull base (Figure 2), narrowing of cranial foramina in brain computed tomography (CT) scan] raised the suspicion of osteopetrosis, which was finally confirmed by bone biopsy and molecular diagnostics. The latter revealed a TCIRG1 gene mutation in a homozygous state, while both parents were found to be heterozygotes for the same allele. Pathology findings were consistent with diagnosis of osteopetrosis. Prominence of the costochondral junctions (rachitic rosary) in chest radiograms (Figure 3), along with low calcium and phosphate levels in serum indicated superimposed rickets. During hospitalization, the infant remained in good clinical condition and was treated with ganciclovir, ceftazidime due to E. coli urinary infection, vitamin D3, levothyroxine and red blood cell (RBC) transfusions. Three months after initial admission, the infant successfully underwent BMT with father being the HLA-compatible donor. Two years later, she remains alive, in a good general condition.

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