Postnatal surgery for myelomeningocele in neonates: neurodevelopmental outcomes.

BACKGROUND: The study aims to evaluate the neurodevelopmental outcomes of neonates with myelomeningocele (MMC) operated in the postnatal period. METHODS: This is a prospective follow-up study in a tertiary neonatal intensive care unit. Neurodevelopmental outcomes of term neonates operated for MMC and healthy term newborns were compared with the Bayley Scales of Infant and Toddler Development -Third Edition (BSID III) at 12-18 months. RESULTS: A total of 57 cases were included in the study (patient group = 27; control group = 30). Demographic data between the groups were similar. Cognitive, linguistic, and motor composite scores of the patient group were lower than those of the control group (p < 0.001). In the patient group, those who underwent ventriculoperitoneal shunt had lower cognitive, language and motor scores than those without shunt (p < 0.05). The cognitive, linguistic, and motor composite scores in the patient group who underwent surgery before 72 h were better than those who underwent surgery after 72 h. DISCUSSION: In our study, it was found that the neurodevelopmental prognosis of MMC cases requiring ventriculoperitoneal shunt in the postnatal period was significantly worse than those without shunt. It is the first study in which the neurodevelopment of patients with MMC who were operated in the postnatal period was evaluated with BSID III evaluated and delays in all areas were shown in cases with MMC compared to normal cases. Better neurodevelopmental outcomes in patients operated in the first 72 h suggest that early surgery will improve neurodevelopmental outcomes in patients with MMC.

Nutritional B12 deficiency in infants of vitamin B12-deficient mothers.

AIM: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. SUBJECTS AND METHODS: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. RESULTS: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. CONCLUSION: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

A novel case of neonatal acute respiratory distress syndrome with SARS-CoV-2 infection: potential perinatal transmission. / Presentación de un caso novedoso de síndrome de dificultad respiratoria aguda neonatal con infección por SARS-CoV-2: posible transmisión perinatal.

Coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is the first pandemic of the 21st century. SARS-CoV-2 infection is mainly transmitted via droplets. Although some cases of perinatal transmission have been reported, it is unclear whether these infections occurred via transplacental or transcervical routes or via environmental exposure. Herein, we present the case of a newborn who died with neonatal acute respiratory distress syndrome exhibiting severe pulmonary involvement. The baby was born to a COVID-19 PCR (+) mother by C-section and was found to be COVID-19 PCR (+) from a nasopharyngeal swab sample tested within 24 hours of birth due to the suspected transplacental transmission of SARS-CoV-2 from the mother to the fetus.

La enfermedad por coronavirus de 2019 (COVID-19), causada por el coronavirus 2 del síndrome respiratorio agudo grave (SARS-CoV-2), se convirtió en la primera pandemia del siglo XXI. La infección por SARS-CoV-2 se transmite principalmente a través de las gotículas. Si bien se han informado algunos casos de transmisión perinatal, no es claro si estas infecciones fueron resultado de la vía de contagio transplacentario o transcervical o de la exposición ambiental. En este artículo, presentamos el caso de un recién nacido que falleció por síndrome de dificultad respiratoria aguda neonatal con compromiso pulmonar grave. El bebé nació por cesárea de una madre con una PCR positiva para COVID-19 y se detectó que tenía una PCR positiva para COVID-19 mediante un hisopado nasofaríngeo en el transcurso de las 24 horas posteriores al parto debido a una sospecha de transmisión transplacentaria del SARS-CoV-2 de la madre al feto.

Comparison of the neurocognitive outcomes in term infants treated with levetiracetam and phenobarbital monotherapy for neonatal clinical seizures.

PURPOSE: This study aims to compare the neurocognitive outcome in term infants who were treated using phenobarbital (PB) and levetiracetam (LEV) monotherapy for neonatal clinical seizures. METHODS: Term infants who were treated using PB or LEV monotherapy as the first-line anti-epileptic treatment for neonatal clinical seizures and followed-up in a pediatric neurology outpatient clinic were enrolled in this study. Neurodevelopmental outcome assessments were carried out using the Bayley Scales of Infant Development, third edition (BSID-III), including cognitive, receptive language, expressive language, fine motor and gross motor subscales. RESULTS: The study group consisted of 62 infants who received monotherapy with PB monotherapy (n = 22) and LEV (n = 40). The mean duration of monotherapy treatment was 8 ± 6 months. There was no statistically significant difference between PB and LEV monotherapy groups concerning each outcome parameter on the BSID-III. There was also no statistically significant difference between PB and LEV monotherapy subgroups excluding the infants with neurodevelopmental impairment with a BSID-III scale score<7 or a composite score<85. CONCLUSION: Our findings suggest that both LEV and PB therapy can be equally safe as monotherapy for neonatal clinical seizures for the neurodevelopmental outcome assessment with BSID-III.

Efficacy and Safety of Intravenous Colistin in Very Low Birth Weight Preterm Infants.

BACKGROUND: Given the severity and high mortality of multidrug-resistant Gram-negative bacilli (MDR-GNB) infections, the use of colistin will increase in patients with MDR-GNB infection. OBJECTIVE: This study aims to assess the efficacy and safety of intravenous colistin in very low birth weight (VLBW; birth weight < 1500 g) preterm infants. METHODS: We retrospectively analyzed the medical records of patients who received colistin between June 2016 and December 2017. The patients were assigned to two groups: the VLBW group and the non-VLBW group. Both groups were evaluated for response to treatment and adverse effects. RESULTS: In total, 66 infants who received colistin therapy were included; of these, 28 infants were VLBW. All of our patients received standard colistin treatment of 5 mg/kg per day in three doses and the median duration of colistin treatment was 14 days. No significant differences were observed between the groups with respect to the efficacy of colistin (defined as showing microbiological clearance in control cultures and the absence of mortality during treatment) (89.3 vs 86.8%, p > 0.99). Serum magnesium and potassium levels were significantly lower in the VLBW group than in the non-VLBW group during colistin therapy (magnesium, 1.30 vs 1.70 mg/dL, p < 0.001; potassium, 3.6 vs 4.6 mEq/L, p < 0.001). Acute kidney injury was observed in four infants in the VLBW group and one in the non-VLBW group, without significant differences (p = 0.15). CONCLUSIONS: Colistin administration appears to be efficacious in VLBW infants; however, renal function tests and serum electrolytes should be monitored more closely in these infants during treatment.

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 novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings.

Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubas F, Tatli M, Konrad M, Yavascan Ö, Kasap-Demir B. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turk J Pediatr 2018; 60: 76-80. Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades. Mutations in CLDN-16 and CLDN-19 genes are associated with disrupted magnesium handling in the thick ascending limp of Henle`s loop. Patients with mutations in these genes share similar clinical features, and those with CLDN-19 gene mutations have ocular findings in addition. A 2-month-old boy, was admitted to our clinic with the complaints of upper respiratory tract infection. He was the first-born child of consanguineous parents. Laboratory findings revealed hypocalcemia and hypomagnesemia. Bilateral medullary nephrocalcinosis was detected on abdominal ultrasound. His ophthalmologic examination was unremarkable. With hypomagnesemia, hypercalciuria and nephrocalcinosis, the patient was considered to have FHHNC. Oral magnessium supplementation was initiated. Four years of follow-up has been completed uneventfully. When 6-days-old the brother of the case above was admitted with seizure. The patient was resistant to calcium and anticonvulsant drugs and the seizure activity could only be controlled after magnesium infusion. Biochemistry profile revealed hypocalcemia and hypomagnesemia. Urinary calcium extraction was 11 mg/kg/day. Medullary nephrocalcinosis was reported on renal ultrasound. His eye examination, echocardiography, transfontanel ultrasound and electroencephalography were normal. Due to the triad of hypomagnesemia, hypercalciuria and nephrocalcinosis, and the medical history of his elder brother, he was diagnosed with FHHNC. After correction of the electrolyte abnormalities, he was discharged from hospital and is currently being followed-up without any problem. In this manuscript, we shared our experience about a novel homozygous mutation (W99C) in CLDN-16 gene causing FHHNC in a couple of Turkish siblings.

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.

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.

Presentación de un caso novedoso de síndrome de dificultad respiratoria aguda neonatal con infección por SARS-CoV-2: posible transmisión perinatal / A novel case of neonatal acute respiratory distress syndrome with SARS-CoV-2 infection: potential perinatal transmission

La enfermedad por coronavirus de 2019 (COVID-19), causada por el coronavirus 2 del síndrome respiratorio agudo grave (SARS-CoV-2), se convirtió en la primera pandemia del siglo XXI. La infección por SARS-CoV-2 se transmite principalmente a través de las gotículas. Si bien se han informado algunos casos de transmisión perinatal, no es claro si estas infecciones fueron resultado de la vía de contagio transplacentario o transcervical o de la exposición ambiental. En este artículo, presentamos el caso de un recién nacido que falleció por síndrome de dificultad respiratoria aguda neonatal con compromiso pulmonar grave. El bebé nació por cesárea de una madre con una PCR positiva para COVID-19 y se detectó que tenía una PCR positiva para COVID-19 mediante un hisopado nasofaríngeo en el transcurso de las 24 horas posteriores al parto debido a una sospecha de transmisión transplacentaria del SARS-CoV-2 de la madre al feto.

Coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is the first pandemic of the 21st century. SARS-CoV-2 infection is mainly transmitted via droplets. Although some cases of peri-natal transmission have been reported, it is unclear whether these infections occurred via transplacental or transcervical routes or via environmental exposure. Herein, we present the case of a newborn who died with neo-natal acute respiratory distress syndrome exhibiting severe pulmonary involvement. The baby was born to a COVID-19 PCR (+) mother by C-section and was found to be COVID-19 PCR (+) from a nasopharyngeal swab sample tested within 24 hours of birth due to the suspected transplacental transmission of SARS-CoV-2 from the mother to the fetus.

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.

46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.

Diabetic ketoacidosis presenting with pseudonormoglycemia in a 15-year-old girl with type 1 diabetes mellitus.

Pseudonormoglycemic diabetic ketoacidosis (DKA) is a rare condition and has been reported only in a few adult patients. We present a 15-year-old girl with a 9-year history of type 1 diabetes who presented with euglycemic and extreme hypertriglyceridemia. The acidosis and hypertriglyceridemia resolved with intravenous insulin therapy and rehydration. Hyperlipidemia was the apparent cause of pseudonormoglycemia in this patient. The findings in the present case demonstrate that also in children, DKA can rarely occur without abnormal blood glucose levels. Assessment of the acid-base status, urinary glucose, and ketone readings is therefore important in all diabetic patients who are unwell at admission and have normal glucose levels. In such patients, hyperlipidemia may cause pseudonormoglycemia. An awareness of this rare treatable life-threatening condition is important.

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.

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.

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.