Transient Neonatal Myasthenia Gravis: A Case Report.

Transient neonatal myasthenia gravis (TNMG) is a neuromuscular disorder that occurs in infants born from mothers with myasthenia gravis (MG) due to transplacental transfer of antibodies against the acetylcholine receptor. TNMG is a rare form occurring in 10-15% of infants born from mothers with MG. We present a case of a newborn with TNMG with generalized hypotonia and respiratory distress. The newborn shows symptoms of hypotonia, weakened reflexes, poor crying, difficult sucking and potentiated tachydyspnea after 24 hours of birth and needs of assisted mechanical ventilation. Based on the mother's positive history of MG and the high titer of mother's (8.43nmol/l) and newborn's (9.088nmol/l) anti-AChR antibodies, TNMG was diagnosed. The baby was treated with assisted mechanical ventilation and neostig-mine until the anti-AChR antibody titer was negative. Adequate management of the newborn resulted in a positive outcome and evident withdrawal of the symptoms. Although TNMG is one of the rare neuromuscular disorders in newborns that can be treated, a multidisciplinary approach in the management of pregnant women with MG and newborns through timely diagnosis and early appropriate treatment, results in successful resolution of this condition.

Hypoxic Ischemic Encephalopathy (HIE) in Term and Preterm Infants.

Hypoxic-ischemic syndrome (HIS) and Hypoxic-ischemic encephalopathy (HIE) are conditions that affect term and premature babies, with different pathophysiology and different brain disorders. HIE appears in 1-6 / 1000 live births and 26/1000 live births in developing countries. 15-20% die in the early neonatal period, while surviving babies have severe neurological impairment, including cerebral palsy, epilepsy, visual and hearing impairment, cognitive impairment, intellectual, behavioural, and social disorders. The hypoxic-ischemic event occurs before, during or after birth. The reasons may be related to the mother, the way of birth, the placenta, and the newborn. The criteria for diagnosis of HIE include a combination of perinatal factors, the need for resuscitation, standard neurological examinations, neurophysiological monitoring, neuroimaging methods and biochemical markers. The most effective treatment for HIE is hypothermia in combination with pharmacological therapy. HIE and HIS are problem that still persist in developing countries due to inadequate obstetric care, neonatal resuscitation, and hypothermia. Current and emerging research for HIE examines new markers for early recognition, treatment, and appropriate neuroprotection of high-risk term and premature infants.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.

Large Neck Teratoma in a Newborn with Respiratory Distress Syndrome.

Neonatal tumours in the neck region are a rare finding. Teratomas typically comprise all three germ cell layers with tissues usually foreign to the anatomic site of origin. Head and neck teratomas account a smaller part of congenital teratomas. They can cause major airway obstruction due to the external compression that oropharyngeal or neck masses produce. In addition, there can be an intrinsic lesion in the larynx or trachea. We describe a premature, 30-gestational week-old newborn with large subcutaneous neck mass. Pre-delivery ultrasound showed heterogeneous tumor structure and displaced larynx. The intubation was successful. The newborn developed respiratory distress syndrome immediately after birth which rendered the surgical removal of the neck tumor impossible. An autopsy was done, and the histopathology revealed mature teratoma comprising muscle, brain, salivary and pulmonary tissues, as well as well-developed hyaline membranes in the alveoli. The combination of the respiratory distress syndrome and the neck tumor compression proved fatal. Prenatal diagnosis, therapeutic options and ex utero intrapartum treatment (EXIT) procedures are discussed for the diagnosis and management of this very rare tumor.

Neuro Developmental Consequences of Neonatal Hypoglycemia.

Neonatal hypoglycemia (HG) can cause neurologic damage, epilepsy, mental retardation, behavioral and personality disorders and death. The longest the HG lasts and the greatest the glucose nadir the consequences are more pronounced. Comorbidities are rather important in development of neurological damage. Hypoxemia and ischemia can cause permanent brain damage. Small for gestational age (SGA), large for gestational age (LGA), intrauterine growth restriction, gestational age bellow the 37th week, low Apgar score, sepsis, children whose mothers have toxemia, diabetes or chorioamnionitis are all newborns with increased HG risk. Comparing 34 patients with NH and 34 children without NH with similar GA, BW, BL, the Apgar score, we found statistically significant differences in motor and mental development using the Griffith scale. Children with neonatal HG fared significantly worse than those without neonatal HG. Therefore, CBG measurements and early recognition of neonatal HG is of significant importance in preventing motor and mental damage in children. A larger and well-balanced cohort of patients followed for a longer period is also necessary to clarify and discern in detail the importance of neonatal HG and other perinatal factors in neurodevelopmental damage.

The CRIB II (Clinical Risk Index for Babies II) Score in Prediction of Neonatal Mortality.

Predicting the outcome of neonatal critical patients remains elusive. The multiple factors of maternal state of health (infections, diabetes, gestosis), the placental situation (premature rupture of membranes) as well as multiple factors from the baby (small for gestational age, low Apgar score, low birth infections, mechanical ventilation, hypoglycaemia hyperglycamiea) render the approach to treatment of each patient individual and the outcome uncertain. Several approaches and scales are developed in order to assess the mortality risk in those rather complicated situations.We used the CRIB-II scale to assess the mortality risk in 80 patients delivered in a large tertiary level hospital with more than 4,000 deliveries yearly. The patients were stratified according to all the neonatal risk factors and comorbidities. The CRIB-II scale identified well the mortality rates, but not the outcomes. A large and well-balanced cohort of patients followed for a longer period is required to discern in detail the importance of CRIB-II scale in predicting outcomes in high-risk new-borns. This could serve as an assistance to personalized approach to severely sick children. In addition, it is a valuable method in comparing outcomes in different NICUs and outcomes in different times in the same NICU, thus rendering possible improvements in the same unit and among several NICU departments.

Hypoglycaemia in the Newborn.

AIM: Severe neonatal hypoglycaemia (HG) leads to neurologic damage, mental retardation, epilepsy, impaired cardiac performance and muscle weakness. The aim was to assess the frequency and severity of HG in a population of newborns. PATIENTS AND METHODS: We investigated 739 patients with neonatal hypoglycaemia (HG) (M:F=370:369) born at the University Clinic for Gynaecology and Obstetritics in Skopje in the period 2014-2016 and treated at the neonatal intensive care unit (NICU). 1416 babies were treated in the same period in NICU, and HG was observed in 52.18%. The birth weight was dominated by children with low birth weight: very low birth weight (VLBW)(<1500g) 253 children, (34,23%), low birth weight (1500-2500g) 402 (54.39%), appropriate for gestational age (AGA) 78(10.55%), and high birth weight (>4000g) 6 babies (0.81%). The gestational age was also dominated by children with low gestational age: gestational week (GW) 20-25 four children (0.54%), 26-30 GW 133 babies (17.99%), 31-35 GW472 (63.87%), and 36-40 GW130 neonates (17.59 %). 241 mothers (32.61%) have had an infection during pregnancy, 82 preeclampsia or eclampsia (11.09%), 20 diabetes mellitus (2.70%), 78 placental situations (placenta previa, abruption) (10.55%). In this study 47 babies (6.35%) with HG and co-morbidities died. There was a significant positive correlation between HG birth weight (p<0.01), gestational age (p<0.05), and the lowest Apgar score (p<0.01). Neonatal deaths were significantly correlated with GA (р>0,01), co-morbidities of the mothers (р>0,05) but not with the birth weight (р>0,05). In contrast, a significant positive correlation was found between convulsions and body weight (р<0.05). The lowest Apgar score was positively correlated with the gestational age (0.01), but not with the birth weight (0.05). CONCLUSION: Low birth weight, low gestational age, maternal risk factors, hypoxic-ischemic encephalopathy and neonatal infections are associated with HG and are a significant factor in overall neonatal mortality. Those results indicate that diminishing the frequency of the neonatal HG and the rates of neonatal mortality requires complex interaction of prenatal and postnatal interventions.

Neonatal Hypoglycemia: Risk Factors and Outcomes.

BACKGROUND AND AIMS: Severe neonatal hypoglycemia (HG) leads to neurologic damage, mental retardation, epilepsy, personality disorders, impaired cardiac performance and muscle weakness. We aimed to assess the clinical characteristics of children with hypoglycemia in a random population of newborns. PATIENTS, METHODS AND RESULTS: We investigated 84 patients (M:F=35:48) born at the University Clinic for Gynecology and Obstetrics in Skopje (hospitalized in the NICU) who were found to have hypoglycemia. In total 89.25% of the babies were premature. The mean birth weight was 1795.95 +/596.08 grams, the mean birth length was 41.92+/- 4.62 cm, while the mean gestational age was 33.05±3.19 weeks. 32 children (38.08%) were very low birth weight (<1500g), 38 (45.22%) were low birth weight (1500-2500g), while there were 8 children (9.52%) appropriate for age BW and no high BW for age patients (>4000 g). HG duration was 2.42+/-2.41 hours. In the group as a whole, hypoxic-ischemic encephalopathy (HIE) was found in 3 children (3.57%), infections in 22 (26.18%), respiratory distress syndrome (RDS) in 9 patients (10.62%), intracranial haemorrhage in 2 patients (2.38%). There were no inborn errors of metabolism. There were two deaths (2.38%). CONCLUSION: Neonatal HG is a significant factor in the overall neonatal mortality. HG can also cause severe invalidity. We found that infections, LBW and low gestational age were most commonly associated with neonatal HG. However the Spearman test showed weak direct correlation, without statistical significance. Neonatal HG requires complex and team interaction of prenatal and postnatal approaches to reduce the incidence of seizures, their consequences and the overall mortality. Special consideration is to be taken in measures that avoid neonatal infections, HIE, LBW and low gestational age. Further studies on a larger population are needed to fully understand and prevent the phenomenon of HG in newborns.

Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn.

We report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture. Cutaneous syndactyly was present at both hands (fingers II-V), with almost complete fusion of the second, third and fourth fingers. Distal phalanges of the thumbs were broad as well as distal hallux. There was cutaneous syndactyly of the feet. Mental development at the age of 11 months was normal. Apert syndrome is a sporadic disorder. Rarely, inheritance is autosomal dominant. Appropriate management includes surgical treatment of the syndactylies, follow up of the eventual airway compromise and hearing difficulties. This is a report of a patient identified as a newborn.

Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.

INTRODUCTION: Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported. CASE PRESENTATION: This 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrelated, young and healthy. No malformations or mental retardation have been reported in the family. Since his birth a specific posture was noted: internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. In addition, the child has a severe equinovarus deformity of the feet. Syndactily between II and III finger was also noted. His face is round with a frontal midline capillary hemangioma, while his jaw appears to be small. Mental development is normal. The karyotype is: 46, XY. CONCLUSIONS: About 150 syndromes have arthrogryphosis as a presenting sign. AMC is a distinct entity and distinction with the distal forms of arthrogryphosis can be difficult, since there is a considerable clinical and genetic heterogeneity. A comprehensive musculoskeletal evaluation and genetic consultation is necessary.