Neonatal portal vein thrombosis: risk factors, diagnosis, treatment recommendations and review of the literature.

BACKGROUND: Neonatal portal vein thrombosis (PVT) is currently more commonly encountered as a result of advances in diagnostic tools and increase in invasive interventions. METHODS: In this study, 11 premature and 12 term infants diagnosed with PVT were retrospectively evaluated for clinical and laboratory characteristics, umbilical catheterization procedure, PVT location, risk factors, treatments, and long-term outcomes. RESULTS: Median age of the patients at diagnosis was 10 days (range 3-90 days), and 69.6% of patients were girls. Of the 23 patients, 87% had left PVT and, 91.3% had at least one thrombosis risk factor, which was sepsis in 73.9% of patients, and presence of umbilical venous catheter in 87%. Totally, 59.1% of PVTs were completely resolved in a median follow-up of 7 months (1 month to 12 months), and 78.3% of these patients had no anticoagulant therapy (ACT). Partial thrombus resolution was achieved in 9 patients (40.9%). Five patients (%21) received ACT. Overall, 34.8% of patients had long-term complications. neonatal PVT is most commonly reported in the left portal vein and there is no evidence for the impact of ACT on reducing the short- or long-term complications. Well designed and larger studies are necessary to clarify this issue, which can facilitate developing appropriate management algorithms. CONCLUSION: Neonatal PVT is most commonly reported in the left portal vein and there is no evidence for the impact of ACT on reducing the short- or long-term complications. Well designed and larger studies are necessary to clarify this issue, which can facilitate developing appropriate management algorithms.

Neonatal Outcomes of Premature Infants Born to Women with the Novel Coronavirus (SARS-CoV-2) Infection: A Case Control Study.

OBJECTIVE: Novel coronavirus disease 2019 (COVID-19) is a disease associated with atypical pneumonia caused by the severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2). The first cases of COVID-19 were reported in Wuhan at the end of 2019. Transmission usually occurs via infected droplets and close personal contact; the possibility of vertical transmission is still under debate. This retrospective study aimed to analyze clinical characteristics of premature infants born to mothers with symptomatic COVID-19 disease. STUDY DESIGN: This case control study compared the clinical and laboratory data of 20 premature infants born to mothers infected with SARS-CoV-2 with sex and gestational age-matched historical controls. RESULTS: The median gestational age and birth weight in both groups were similar. Respiratory distress developed in 11 (55.5%) infants in study group and 19 (47.5%) infants in control group. Mechanical ventilation and endotracheal surfactant administration rates were similar. Median duration of hospitalization was 8.5 (2-76) days in study group and 12 days in historical controls. Real-time reverse-transcription polymerase chain reaction tests (RT-PCR) of nasopharyngeal swab samples for SARS-CoV-2 were found to be negative twice, in the first 24 hours and later at 24 to 48 hours of life. No neutropenia or thrombocytopenia was detected in the study group. Patent ductus arteriosus, bronchopulmonary dysplasia, and necrotizing enterocolitis rates were similar between groups. No mortality was observed in both groups. CONCLUSION: To the best of our knowledge, this is one of the few studies evaluating the clinical outcomes of premature infants born to SARS-CoV-2 infected mothers. There was no evidence of vertical transmission of SARS-CoV-2 from symptomatic SARS-CoV-2-infected women to the neonate in our cohort. The neonatal outcomes also seem to be favorable with no mortality in preterm infants. KEY POINTS: · SARS-CoV-2 pandemic is a challenge for pregnant women.. · Neonatal outcomes of premature infants born to mothers infected with SARS-CoV-2 not well defined.. · SARS-CoV-2 infection seems to have no adverse effect on mortality and morbidity in premature infants..

Severity of Maternal SARS-CoV-2 Infection in Pregnancy Predicts Neonatal Outcomes.

OBJECTIVE: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak had an enormous global impact. Pregnant women with SARS-CoV-2 appear to have higher morbidity and mortality. This study aimed to evaluate the effect of the severity of maternal SARS-CoV-2 infection on neonatal outcomes. STUDY DESIGN: The clinical and laboratory data of 40 women and neonates evaluated retrospectively. RESULTS: This retrospective study showed that SARS-CoV-2 infection had an adverse impact on neonatal outcomes proportionally with the maternal disease severity including increased prematurity rates, postnatal resuscitation need, prolonged hospital stay and longer ventilatory support requirement in infants born to mothers with moderate or severe disease. CONCLUSION: Maternal disease severity had adverse effects on neonatal outcomes. The severity of maternal disease was found to be associated with increased rates of prematurity, requirement of postnatal resuscitation, prolonged hospital stay, and longer ventilatory support. KEY POINTS: · SARS-CoV-2 pandemic is a problem for pregnant women.. · Vertical transmission has been shown in limited studies.. · Maternal disease severity may have impact on neonatal outcomes..

SIMPLE: A Novel Scoring System for Predicting Hemodynamically Significant Patent Ductus Arteriosus Without Echocardiographic Evaluation in Extremely Low Birth Weight Infants.

Aim: To develop a novel clinical scoring system for predicting hemodynamically significant patent ductus arteriosus (hsPDA) in extremely low birth weight (ELBW) infants. Methods: A prospective observational study was conducted among ELBW infants born in the study center during a 6-month period. Fourteen items were selected on a literature review basis and weighed by severity on an arbitrary 1-4 scale, the sum of which represented the Scoring preterm Infants for PDA cLinically without Echocardiographic evaluation (SIMPLE) score. The SIMPLE scores were compared at several time points during the first 3 days of life between two groups of patients: those with an hsPDA at echocardiography and those without. Results: A total of 48 ELBW infants were enrolled, of which 30 infants developed hsPDA. The SIMPLE scores of the infants with hsPDA were significantly greater than those of the infants who did not develop hsPDA. Cut-off SIMPLE scores that were significantly associated with detection of symptomatic hsPDA at each evaluation time point were identified. Conclusions: SIMPLE is the first scoring system that depends on the risk factors and clinical findings of ELBW infants for early prediction of hsPDA. It is simple, objective and easy to perform, and it does not require any additional tests and/or echocardiographic evaluation. We suggest that SIMPLE can be used as a screening tool for determining the need for echocardiographic evaluation in ELBW infants in order to minimize the number of unnecessary pediatric cardiology consultations.

Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso / Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. / Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

A Study of the Relationship Between Cystatin C and Metabolic Bone Disease in Preterm Infants

OBJECTIVE: Cystatin C (CysC) is commonly used as a marker of renal failure in premature infants. The aim of this study was to investigate serum CysC levels in osteopenia of prematurity (OP) and determine whether CysC could be safely used as a marker of renal insufficiency in infants with OP. METHODS: Subjects were 50 preterm infants (≤32 gestational weeks). Calcium (Ca), phosphorus (P) and alkaline phosphatase (ALP) serum levels were measured in postnatal week nine, and bone density was measured concurrently by quantitative ultrasonography. Patients with a Z score of <-2 were considered to have OP. RESULTS: The mean serum CysC levels in preterm infants in postnatal week nine were 1.50±0.19 mg/L. Serum CysC levels were not correlated with speed of sound values, Z scores, serum Ca, P or ALP levels. Serum CysC levels were not significantly different between infants with OP [1.50 (1.35-1.61) mg/L] and in infants without OP [1.58 (1.28-1.70) mg/L]. CONCLUSION: The presence of OP does not affect the safety of CysC as a marker of renal insufficiency in preterm infants.

Thyroid status of iodine deficient newborn infants living in central region of Turkey: a pilot study.

BACKGROUND: Iodine deficiency (ID) during the fetal and neonatal periods can lead to neonatal hypothyroidism. This study was conducted to evaluate the effect of ID on the thyroid hormone level of newborns living in Turkey. METHODS: Between 1998 and 2013, 71 newborns with a urinary iodine concentration <100 µg/L were recruited into the study. Data on thyroid volume, free triiodothyronine (fT3), free thyroxine (fT4), thyroid stimulating hormone (TSH), and thyroglobulin (Tg) were collected from all newborns, and on breast milk iodine from their mothers. Infants who were classified as having congenital hypothyroidism (TSH >40 mU/L and fT4 <8.5 pmol/L) were treated with levothyroxine (n=26, T group), while the remaining infants remained untreated (n=45, UT group). Thyroid hormones were subsequently measured 7-14 days later in a sub-sample of both treated and untreated infants. RESULTS: The average values at the time of admission were as follows [median (min-max)]. fT3: 5.0 (2.8-7.1) pmol/L, fT4: 7.7 (0.13-19.1) pmol/L, TSH: 75 (14-426) mU/L, Tg: 464 (226-1100) ng/mL, urinary iodine concentration (UIC): 30 (0-61) µg/L, breast milk iodine levels: 21 (10-150) µg/L, thyroid ultrasound (USG): 1.10 (0.24-1.95) mL for the T group; and fT3: 5.7 (1.7-12.7) pmol/L, fT4: 16.2 (9.9-33.5) pmol/L, TSH: 5.4 (0.63-41.8) mU/L, Tg: 171 (15-2124) ng/mL, UIC: 39 (0-90) µg/L, breast milk iodine levels: 47 (10-120) µg/L, thyroid USG: 0.75 (0.35-1.72) mL for the UT group. A significant difference was found between groups in respect to fT3, fT4, TSH and Tg levels. No significant difference in thyroid ultrasonography, UIC, and breast milk iodine levels was found between the two groups. The Tg levels of 50 out of 71 patients were measured, 40 (80%) of whom had Tg levels above the normal range (101 ng/mL). CONCLUSIONS: In our country, despite the use of iodized salt, congenital hypothyroidism due to ID remains a problem. The Tg level of newborns can be used as a good indicator of ID.

Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Piel marmórea telangiectasica congenita y sindactilia en un recién nacido prematuro: A proposito de un caso / Congenital cutis marmorata telangiectatica and syndactyly in a preterm: Case report

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.

El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.

Síndrome de artrogriposis, disfunción tubular renal y colestasis: causa de colestasis neonatal. A propósito de un caso / Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report

El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.

Investigation on malondialdehyde, S100B, and advanced oxidation protein product levels in significant hyperbilirubinemia and the effect of intensive phototherapy on these parameters.

BACKGROUND: The parameters of oxidative stress [advanced oxidation protein products (AOPPs), malondialdehyde (MDA), and S100B] and the effect of intensive phototherapy (PT) on these parameters have not been studied extensively in newborns with significant hyperbilirubinemia (SH). We aimed to measure the levels of MDA, S100B, and AOPPs in newborns with SH, and to compare newborns with healthy control newborns without hyperbilirubinemia on the basis of these parameters of oxidative stress. In addition, we investigated the effect of intensive PT on these parameters during the treatment of SH and report our findings for the first time in the literature. METHODS: The study was performed in newborns (n = 62) who underwent intensive PT because of SH. Newborns without jaundice constituted the control group (n = 30). Both groups were compared with respect to demographic characteristics and biochemical (laboratory) parameters including MDA, AOPPs, and S100B. MDA, AOPPs, and S100B were also compared before and after intensive PT in the PT group. In the study group, a correlation analysis of demographic characteristics; MDA, AOPP, and S100B values; and changes occurring in MDA, AOPPs, and S100B values due to the effect of intensive PT was performed. RESULTS: Serum total bilirubin, S100B, and MDA levels in the PT group before performing PT were significantly higher than those in the control group. In newborns receiving PT serum total bilirubin, MDA and AOPP levels decreased significantly after intensive PT. In correlation analysis, a statistically significant negative correlation was found only between the amount of bilirubin decrease with PT and AOPP levels after PT in the study group. CONCLUSION: Whether the significant decrease in MDA levels, which was higher prior to PT, is due to the decrease in serum bilirubin levels or due to the effect of intensive PT itself remains to be determined in further studies. The decrease in AOPP levels after PT implies that intensive PT has protective effects on oxidative stress.

Ovarian hyperstimulation syndrome treated by medroxyprogesterone acetate.

The activation of the hypothalamic-pituitary-gonadal axis observed during the first month of life is thought to be a significant phase in the maturation of gonads and potentially be important for the development of reproductive functions. The preterm ovarian hyperstimulation syndrome (POHS) was first detected at postconception 36-39 weeks in a preterm female newborn with edema developing in the vulva, the hypogastric site, and the upper leg. The pathophysiology of this postnatal hormonal change is obscure. In this paper we would like to present a case developing POHS and to discuss possible pathophyslogical mechanisms.

Effect of iodine loading on the thyroid hormone level of newborns living in Kayseri province.

INTRODUCTION: Excessive iodine exposure during the fetal and neonatal periods can lead to neonatal hypothyroidism. This study was conducted to evaluate the level of iodine loading among newborns living in Kayseri province. A total of 59 newborns, who were admitted due to disorders in thyroid hormone levels, were included in the study. Materials and METHODS: Among the patients who applied with thyroid hormone dysfunction, newborns with a spot urine iodine level ≥ 20 µg/dL were included in the study between the years 2003 and 2013. Free T3 (fT3), free T4 (fT4), thyroid stimulating hormone (TSH), thyroglobulin (Tg), breast milk iodine, thyroid ultrasonography, and control measurements of fT3, fT4, TSH, and Tg levels were obtained accordingly from both groups of patients who received or did not receive treatment. RESULTS: The average age of the patients was 15 days with a 36/23 girl to boy ratio. Statistically, no significant difference was noticed between all the girls and boys with respect to all the measured values. The etiologic search showed that out of 59 cases, in 18 cases (30.5%) only the mother and in 19 cases only the newborns (32.2%) had a history of povidone iodine exposure; in 8 cases both mothers and their babies had exposure to povidone iodine (13.6%). In 14 cases (23.7%), the source of iodine loading could not be determined. Levothyroxine (L-thyroxine) treatment was initiated in 56% of the patients (n = 33). Out of 33 patients who were under treatment with L-thyroxine, in 13 cases only the mother had history of povidone iodine exposure; in 12 cases, only the baby had a history of povidone iodine exposure; in 1 case, both mother and her baby had a history of povidone iodine exposure, but the etiology could not be found in 7 cases. CONCLUSION: The use of antiseptics-containing iodine for mothers before and after birth and for newborns, especially for umbilical cleansing, can lead to iodine loading and hypothyroidism. If transient hypothyroidism develops within this period, then it may not be detected promptly. This can later lead to retardation in psychomotor development and disorder in learning skills during the childhood period.

Neonatal diabetes in an infant of diabetic mother: same novel INS missense mutation in the mother and her offspring.

Neonatal diabetes is defined as an uncontrolled hyperglycemic state occurring within the first 6 months of life. It is a rare disease with an incidence of 1 to 90,000-250,000. It is usually a disease of genetic origin in which insulin gene mutations play the main role in the disease process. A baby, born to a mother who had previously been diagnosed with type 1 diabetes mellitus at 14 months of age, had a high blood sugar level within the first few hours after birth and was subsequently diagnosed as having neonatal diabetes mellitus. Baby and mother were identified as having a novel heterozygous insulin missense mutation, p.C109R. Difficulties occurred in both follow-up and feeding of the baby. Without the addition of the mother's milk, an appropriate calorie milk formula and isophane insulin were used for the baby during follow-up. Multiple mechanisms are responsible in the pathogenesis of neonatal diabetes mellitus. Insulin gene mutations are one of the factors in the development of neonatal diabetes mellitus. If a resistant hyperglycemic state persists for a long time among babies, especially in those with intrauterine growth retardation whose mothers are diabetic, the baby concerned should be followed-up carefully for the development of neonatal diabetes mellitus.

A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.

Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis, intrauterine growth retardation, enlarged brain ventricles and brain anomalies are observed. Growth and development failure, hypotonia, seizures and brain atrophy are the common characteristics of patients with fumarase deficiency. On cranial imaging, the most common findings include polymicrogyria and ventriculomegaly. In our country where consanguineous marriages are common, the incidences of autosomal recessive diseases are expected to be high. In a patient who was born from a consanguineous marriage and referred to our hospital at the age of 45 days because of hyperamonemia and opistotonus, a diagnosis of fumaric aciduria was made with organic acid analysis performed considering metabolic diseases and this diagnosis was supported with radiological investigations. We thought this case was worth presenting, since there was no case of fumaric aciduria reported before in our country.

Factors affecting Brucella spp. blood cultures positivity in children.

Brucella infections have a wide spectrum of symptoms especially in children, making the diagnosis a complicated process. The gold standard for the final diagnosis for brucellosis is to identify the Brucella spp. isolated from blood or bone marrow cultures. The main purpose of this work was to evaluate the factors affecting the isolation of Brucella spp. from blood cultures. In our study, the ratio of fever, presence of hepatomegaly, and splenomegaly were found to be higher in the bacteremic group. In addition, C-reactive protein levels and liver function enzymes were found to be higher in the bacteremic group. In our opinion, while evaluating the febrile child with suspected Brucella infection, we highly recommend sampling blood cultures regardless of the history of previous antimicrobial therapy and duration of the symptoms.

Congenital hypothyroidism due to maternal radioactive iodine exposure during pregnancy.

Radioactive iodine (RAI) is used effectively in the treatment of hyperthyroidism and thyroid cancer, but it is contraindicated during pregnancy. RAI treatment during pregnancy can lead to fetal hypothyroidism, mental retardation and increased malignancy risk in the infant. Pregnancy tests must be performed before treatment in all women of reproductive age. However, at times, RAI is being used before ruling out pregnancy. We herein present a male newborn infant with congenital hypothyroidism whose mother was given a three-week course of methimazole therapy for her multiple hyperactive nodules and subsequently received 20 mCi RAI during the 12th week of her pregnancy. The patient was referred to our neonatology unit at age two weeks when his thyrotropin (TSH) level was reported to be high in the neonatal screening test. Physical examination was normal. Laboratory investigations revealed hypothyroidism (free triiodothyronine 1.55 pg/mL, free thyroxine 2.9 pg/mL, TSH 452 mU/L, thyroglobulin 20.1 ng/mL). The thyroid gland could not be visualized by ultrasonography. L-thyroxine treatment was initiated.