MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.

Mucolipidosis II or I-cell disease is a rare lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-Nacetylglucosamine-l-phosphotransferase. It is a severe inborn error of lysosomal storage that causes progressive multisystem deterioration and death within the first year of life. The diagnosis of ML II is often difficult in an infant due to clinical variety, phenotypic overlap and the enzyme analysis required. Mucolipidosis II and rickets may have similar physical, biochemical and radiographic findings in newborns. The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture. In this article, we describe two neonatal mucolipidosis II patients mimicking rickets, and we evaluated them by clinical, metabolic and imaging findings via literature and also emphasized the difficulties in diagnosis of this rare disease.

22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2).

22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the third and fourth branchial arch. It is also known as DiGeorge syndrome, as it is most often associated with a de novo 3 Mb hemizygous 22q11.2 deletion. The recognition of similarities and phenotypic overlap between DiGeorge syndrome and other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of this syndrome. Indeed, the extent of this phenotypic variability can often make it difficult to accurately diagnose DiGeorge syndrome. Tertiary monosomy resulting from the 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. In this report, we present a female infant with dysmorphic facial features, microcephaly, a cleft palate, unilateral membranous choanal atresia, convulsions, hypocalcemia, semilobar holoporencephaly and echocardiographic abnormalities. To the best of our knowledge, this is the first description of a newborn displaying both DiGeorge syndrome and deletion 18p syndromes.

Chemotherapy for transient myeloproliferative disorder in a premature infant with Down syndrome.

WHAT IS KNOWN AND OBJECTIVE: Congenital leukaemia is the most common leukaemia in newborns with Down syndrome, but it must be differentiated from transient myeloproliferative disorder. The majority of transient myeloproliferative disorders regresses spontaneously during the first few months of life. Data on the treatment outcomes of transient myeloproliferative disorder in premature infants are very rare. We present a case of a very-low-birthweight (1350 g) premature newborn with Down syndrome, diagnosed as having transient myeloproliferative disorder and treated with chemotherapy due to recurrent hyperleucocytosis (WBC: 148 000/mm³) after repeated exchange transfusions. CASE SUMMARY: The patient's WBC count regressed to 24 000/mm(3) without treatment. During the follow-up period, the WBC increased on consecutive days and reached 95 000/mm(3) on the 16th day of the hospitalization. Therefore, chemotherapy was started. Single-agent cytarabine infusion was administered over five days. After the therapy, the WBC count stayed stable and remained steady in the range 4600-13600/mm(3) in the second month. WHAT IS NEW AND CONCLUSION: A very-low-birthweight infant with Down syndrome and recurrent transient myeloproliferative disorder was successfully treated with cytarabine.

The association of molybdenum cofactor deficiency and pyloric stenosis.

Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures. Co-existence of MoCD and pyloric stenosis is previously reported as a coincidence or common etiology. The etiology of the two conditions is unclear; however, reports demonstrate neuronal deficiency in both. We report a neonate who was diagnosed with MoCD and hypertrophic pyloric stenosis.

Thrombopoietin levels of thrombocytopenic term and preterm newborns with infection.

We measured Thrombopoietin (Tpo) levels in thrombocytopenic term and preterm babies with infection to investigate the relationship between thrombopietin levels and platelet counts. Sixteen preterm (27-34 weeks' gestational age) and 5 term neonates (38-41 weeks' gestational age) with the diagnosis of neonatal infection and thrombocytopenia (platelets <150 x 10(9)/L) but, without the evidence of disseminated intravascular coagulation, were prospectively enrolled in the study. Fifteen preterm (27-34 weeks' gestational age) and 9 term (38-40 weeks' gestational age) age-matched healthy neonates were enrolled in the study as control. Blood samples were obtained from each subject at the time when infection and thrombocytopenia were detected and stored until assay. Bacterial infection was confirmed by blood cultures in five patients and by tracheal cultures in five. Median Tpo levels of term controls were lower than those of preterm controls (62 pg/mL vs. 87 pg/mL) (p <0.05). Median Tpo levels of thrombocyopenic preterm patients were higher than the levels of healthy preterms (258 pg/mL vs. 87 pg/mL) (p <0.05). Similarly, median Tpo levels of sick terms were significantly higher than those of healthy term controls (209 pg/mL vs. 62 pg/mL) (p <0.001). There was not significant difference between the median Tpo levels of term and preterm babies with infection (258 pg/mL vs. 209 pg/mL) (p >0.05). There was no correlation between platelet counts and Tpo levels in both term and preterm groups. The results of our study show that healthy term and preterm babies have detectable levels of Tpo and preterm babies have higher Tpo levels than term infants. Although thrombocytopenic babies with infection have increased levels of Tpo, these levels are still lower than the levels of thrombocytopenic children/adult patients and there seems to be no correlation between platelet counts and thrombopoietin levels. So our observation of increased Tpo levels may still be inadequate for normal platelet production in this period. and this group of babies may also be candidates for the administration of recombinant human Tpo.

Central diabetes insipitus in a patient with congenital toxoplasmosis.

A 33-day-old male infant who developed central diabetes insipitus as a complication of congenital toxoplasmosis is presented. He had polyuria and hypernatremia on admission and responded to Intranasal desmopressin acetate with the normalization of above mentioned findings. Computed tomographic (CT) scan of the brain showed obstructive hydrocephaly with periventricular and right basal ganglion calcification. CT scan of the pituitary gland, thyroid function tests, and serum cortisol levels were all normal. This is the first report of isolated diabetes insipitus with congenital toxoplasmosis in literature and central diabetes insipitus should be remembered if polyuria and hypernatremia develops in a patient with congenital toxoplasmosis.

Predictive value of plasma and cerebrospinal fluid tumour necrosis factor-alpha and interleukin-1 beta concentrations on outcome of full term infants with hypoxic-ischaemic encephalopathy.

AIM: To determine the predictive value of plasma and cerebrospinal fluid (CSF) tumour necrosis factor-alpha (TNF-alpha) and interleukin-1 beta (IL-1 beta) concentrations on the outcome of hypoxic-ischaemic encephalopathy (HIE) in full term infants. METHODS: Thirty term infants with HIE were included in the study. HIE was classified according to the criteria of Sarnat and Sarnat. Blood and CSF were obtained within the first 24 hours of life and stored until assay. Five infants died soon after hypoxic insult. Neurological examinations and Denver Developmental Screening Test (DDST) were performed at 12 months in the survivors. RESULTS: At the age of 12 months neurological examination and DDST showed that 11 infants were normal; 14 had abnormal neurological findings and/or an abnormal DDST result. Eleven normal infants were classified as group 1 and 19 infants (14 with abnormal neurological findings and/or an abnormal DDST and five who died) as group 2. CSF IL-1 beta and TNF-alpha concentrations in group 2 were significantly higher than those in group 1. Plasma IL-1 beta and TNF-alpha concentrations were not significantly different between the two groups. IL-1 beta, but not TNF-alpha concentrations, in group 2 were even higher than those in group 1, although non-survivors were excluded from group 2. When the patients were evaluated according to the stages of Sarnat, the difference in the three groups was again significant. Patients whose CSF samples were taken within 6 hours of the hypoxic insult had higher IL-1 beta and TNF-alpha concentrations than the patients whose samples were taken after 6 hours. CONCLUSIONS: Both cytokines probably contribute to the damage sustained by the central nervous system after hypoxic insult. IL-1 beta seems to be a better predictor of HIE than TNF-alpha.

Granulocyte and granulocyte-macrophage colony-stimulating factors, their receptors and interleukin-3 levels in newborns.

Serum levels of granulocyte-macrophage colony-stimulating factor (GM-CSF), granulocyte colony-stimulating factor (G-CSF) and interleukin-3 (IL-3) as well as neutrophil counts were studied on the first, second and fifth days after birth, in order to elucidate the relations between neutrophil kinetics and these hematopoietic factors. The G-CSF and GM-CSF receptors on neutrophils were also investigated in 16 healthy newborns. G-CSF and GM-CSF receptor-positive neutrophil percentages were not different from those in the peripheral blood of adult controls. The receptor densities, assessed by mean fluorescence channel number, were also similar in newborn and adult neutrophils. The mean serum concentrations of G-CSF were high (191 pg/ml) on the first day of life and gradually decreased on the second (128 pg/ml) and fifth (112 pg/ml) days. A statistically significant correlation (p < 0.05) was found between G-CSF levels and absolute neutrophil counts (ANC). Furthermore, the percentage of decrease in G-CSF levels correlated significantly with the percentage of decrease in ANC (p < 0.001). GM-CSF levels were also high, though less striking, on the first day of life (9.5 pg/ml), remained at high levels on the second (10 pg/ml), and gradually decreased on the fifth (8.8 pg/ml) day. IL-3 levels were high (110 pg/ml) on the first day of life and remained at high levels on the second (138 pg/ml) and fifth (138 pg/ml) days. We found that the IL-3, GM-CSF and G-CSF levels were elevated during the first week of postnatal life. Our findings suggest that significant changes in the levels of the growth factors are likely to be the cause of significant leukocyte blood picture changes during the first week of life. We found normal GM-CSF and G-CSF receptors in uninfected newborns.

Percutaneous peritoneal drainage in the management of acute intestinal perforation.

This case series describes the use of percutaneous peritoneal drainage when it is performed as the definitive treatment for acute intestinal perforation. Seven extremely low birth weight neonates who were admitted to a neonatal intensive care unit of a regional center between March 1987 and October 1992 had acute intestinal perforation. Six neonates were initially treated with percutaneous peritoneal drainage while they were under local anesthesia. Despite reports that percutaneous peritoneal drainage alone can be curative in intestinal perforation, this approach without adjunctive surgery can delay the recovery of bowel integrity.