Iniencephaly

Iniencephaly is an uncommon form of neural tube defects which is characterized by retroflexion of the head and absence of neck as a consequence of defective closure of the vertebral body and arch. Multiple identified risk factors for its causation include environmental, genetic and drugs. We report a case of 38-year-old woman with prior history of still birth and abortions who presented at 35 weeks of gestation with lower abdominal pain and high blood pressure. Mother had consanguineous marriage. Her hypothyroidism was untreated in the first and second trimester. She delivered an iniencephalic baby girl via emergency c-section with multiple malformations at 38 weeks gestation secondary to fetal cardiac deceleration. Baby survived for less than 18 hours. In this case, proper antenatal care and follow up visits were needed along with postnatal genetic and pathological evaluation including assessment of risk factors. Appropriate management is important to prevent complications and recurrence in subsequent pregnancies.

Successful External Cephalic Version in Early Labour: A Case Report and Literature Review

Presentation: A 35 year old woman, gravida 7 para 7, all vaginal deliveries, presented with labour pains at 39 weeks’ gestation with intact membranes. Cardiotocograph (CTG) was reassuring. Diagnosis: Breech presentation was confirmed by an ultrasound. Treatment: The patient was offered options of External Cephalic Version (ECV) versus (vs) Lower Segment Caesarean Section (LSCS). She opted for ECV which was successful, followed by controlled artificial rupture of membranes. She delivered a healthy baby girl vaginally and was discharged home on day 1 postpartum. Conclusion: Although intrapartum ECV is not recommended routinely, there is a place for its judicious use in selective cases. The prerequisites include an experienced obstetrician, reassuring CTG, previous vaginal delivery, no obstetric indication for performing LSCS, adequate amniotic fluid volume with intact membranes, early labour, and informed maternal consent. We recommend keeping theatre on standby while performing ECV in case an obstetric complication arises.

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.

A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature

Background Very long-chain acyl-coenzyme-A dehydrogenase deficiency is a rare, severe life-threatening metabolic disorder of mitochondrial fatty acid oxidation, caused by mutations in ACADVL gene. Here we present a genetically confirmed case of a South Asian baby girl with severe, early-onset form of very long-chain acyl-coenzyme-A dehydrogenase deficiency due to a novel mutation in ACADVL gene. Case presentation Index case was the second baby girl of second-degree consanguineous South Asian parents. She had an uncomplicated antenatal period and was born by spontaneous vaginal delivery at term with a birth weight of 2910 g. She had been noted to have fair skin complexion, hypotonia, and 3 cm firm hepatomegaly. Since birth, the baby developed grunting, poor feeding, and recurrent episodes of symptomatic hypoglycemia and convulsions with multiple semiology. Her septic screening and urine ketone bodies were negative. The baby had high anion gap metabolic acidosis and elevated transaminases and serum creatine phosphokinase levels. Echocardiogram at 4 months revealed bilateral ventricular hypertrophy. Acylcarnitine profile revealed elevated concentrations of tetradecanoylcarnitine (C14), tetradecanoylcarnitine C14:1, and C14:1/C16. Unfortunately, the baby died due to intercurrent respiratory illness at 4 months of age. Sequence analysis of ACADVL gene in perimortem blood sample revealed homozygous frame shift novel variant NM_001270447.1, c.711_712del p.(Phe237Leufs*38), which confirmed the diagnosis of very long-chain acyl-coenzyme-A dehydrogenase deficiency. Conclusions This case demonstrates the importance of early diagnosis and management of very long-chain acyl-coenzyme-A dehydrogenase deficiency in improving the outcome of the patients. Implementation of newborn screening using tandem mass spectrometry in Sri Lanka will be beneficial to reduce the morbidity and mortality of treatable disorders of inborn errors.

Serotonin Syndrome Associated with Antidepressant Discontinuation in a Neonate Following Drug Exposure During Pregnancy

Sudden withdrawal of some drugs leads to withdrawal issues. We describe a baby girl who was indirectly exposed to venlafaxine as her mother was administered this drug during pregnancy for treatment of depression. The subject presented with involuntary movement of the limbs. The mother had also encountered similar scenario along with some other symptoms after she suddenly discontinued her medication. The symptoms of the mother completely resolved a few hours after the she took another dose of venlafaxine. The baby was kept under observation and recovered completely without any intervention. We suggest that healthcare professionals should be aware that patients may require tapering of anti-depressants before discontinuation.

Case of a huge recurrent retroperitoneal liposarcoma diagnosed in the second trimester of pregnancy

We document a case of a 24-year-old gravida 2, para 1 (1001), on her second trimester, who was referred to the surgical oncology service for a palpable right hemiabdominal mass. She previously underwent wide excision of a retroperitoneal atypical lipomatous tumour 2 years ago. Her current case was successfully managed by a multidisciplinary team of doctors from the preoperative phase, the actual surgery up to the adjuvant treatment. She had a two-staged surgery: an elective lower-segment caesarean section at 34 weeks age of gestation for which she delivered a healthy baby girl and, 2 weeks after, she had excision of the huge retroperitoneal tumour recurrence. Histopathology revealed a 35 cm×25 cm×22 cm dedifferentiated liposarcoma, for which she was started on adjuvant systemic chemotherapy.

Psychological Perspectives of Gender Parity

Gender difference is a prominent feature not only in human beings but also in every living species. Personality is an added facet and also one of the most important psychological dimensions that contribute to what make an individual unique as well as classify him/her under a common class. India has one of the fastest growing educated youth populations in the world. Girls below age of 19 years of age comprise one-quarter of India's rapidly growing population. In spite of India's tradition and culture of respecting women, to an extent to treat her as a goddess, the moment a baby is born, the first thing comes to mind is “boy or girl”? The differences are beyond just being biological but more cultural and social. This paper evaluates and examines the implication of various psychological issues and constructs that are important in the life of a baby “girl” born in our country.

Unexpected Baby Death - SIDS or Not?

A two-month-old baby girl died on April 4, 2021, at the Children's Home in Osijek, Croatia. The child was temporarily taken away of her parents because she was born prematurely, she was diagnosed with a risky health condition and it was assessed that the parents were unable to meet the child’s needs. Parents are beneficiaries of social welfare. The mother suffers from diabetes and epilepsy. An autopsy determined that the child had died of pneumonia. The parents last visited the child the day before her death and she was cheerful, happy and in a good mood, but she was coughing, which they warned the authorities at the Children's Home in Osijek. Because of the tragic outcome, the parents publicly expressed doubt in the official version of this sad event which did not have to end in death. This paper describes what a criminal procedure should do in this and similar cases. Keywords: Child; Death; SIDS; Criminal Investigation