Congenital Lobar Emphysema in a 17-Day-Old Male Neonate: The Plain Radiographic Features and a Case Report

Congenital lobar emphysema (CLE) is a rare respiratory disorder which allows air to enter the lungs but can’t escape causing over-inflation of the lobes of the lung. This condition (CLE) is commonly detected in the newborn or young infants but some cases are diagnosed in adulthood. Congenital lobar emphysema is a rare congenital malformation with a prevalence of 1 in 20,000 to 1 in 30, 000, and more prevalent in males, with a male to female ratio of about 3:1. This is a 17 day old male neonate that presented with respiratory difficulty and .had a supine chest radiograph that showed an overinflated left lung field more on the upper and middle zones with flattening of the left hemi diaphragm, marked shift of the heart and mediastinum to the right with some degree of loss of volume involving the right lung. We report the radiographic findings of this case due the rare nature of congenital lobar emphysema.

Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive inherited inborn error of metabolism, which presents with various severity depending on the level of residual enzyme activity. In neonates, it can present with recurrent hypoventilation episodes, persistent encephalopathy with or without microcephaly. MTHFR deficiency also results in hyperhomocysteinemia, homocystinuria and hypomethionemia. We report a male neonate with severe MTHFR deficiency presenting to us on third week of life with progressive encephalopathy, microcephaly, seizures, central hypoventilation. There was similar history in the previous sibling. The patient’s blood lactate, ammonia, tandem mass spectrometry for amino acids and acyl carnitine were normal. He remained encephalopathic with progressive increase in need of respiratory support in spite of supportive treatment and metabolic cocktail consisting of riboflavin, pyridoxine, coenzyme Q and carnitine. This neonate had novel homozygous mutation, which results in MTHFR deficiency. In newborn with hypoventilation or recurrent apnoea with encephalopathy and microcephaly, MTHFR deficiency should be considered as a differential diagnosis. Mutation study helps in confirming diagnosis; however, extended newborn metabolic screening with homocysteine level could help in early diagnosis of these cases.

Spondylocostal Dysplasia and Brachydactyly: a case report

We report a preterm male neonate presenting with a skeletal dysplasia associated with multiple congenital anomalies. Radiologic findings and genetic studies are consistent with spondylocostal dysostosis (SCD) and autosomal dominant brachydactyly. This is the first case report of spondylocostal dysostosis and brachydactyly associated with TBX6 and IHH variants.

ABCA3 Gene Defect - Cause of Severe Respiratory Distress and Failure in Newborn

Surfactant metabolism disorders are rare cause of RDS in term neonates. A near term male neonate presented with respiratory distress syndrome (required Surfactant multiple times) with family history of one still birth and one neonatal death due to RDS in previous siblings. A homozygous missense variation in exon 7 of the ABCA3 gene that results in the amino acid substitution of leucine for proline at codon 186 was detected. He died of severe respiratory failure even after multiple doses of surfactant and ventilation. Surfactant deficiency with ABCA3 gene mutation needs to be suspected in term neonate who present with respiratory distress syndrome with family history or neonatal death with respiratory distress. Keywords: ABCA3 gene defect, Respiratory distress syndrome (RDS), neonates, neonatal death.

A Rare Case of Iliopsoas Abscess in a Term Neonate – Case Report and Brief Review of Literature

Iliopsoas abscesses are rare in neonates. Clinical presentation of neonates with iliopsoas abscess often mimic other common neonatal illness. Typical clinical features as described in adults may not be observed in neonates. Such abscesses cause a diagnostic dilemma for the clinician, often resulting in a delay in clinical diagnosis and institution of specific treatment. We report a case of a 10-day old term male neonate from community who presented with high grade fever, abdominal distension, left lower limb swelling with limitation of movement and diagnosed to have left sided iliopsoas abscess on ultrasonography. The neonate undergone and extraperitoneal surgical drainage of the abscess along with a course systemic antimicrobial agent. The case is of clinical importance because it describes the presence of a localized abscess in an uncommon location and Methicillin resistant staphylococcus being the causative organism, which represents a rare and potentially life-threatening infection in neonates.

Transfusion-Associated Circulatory Overload (Taco) Presentations In Pediatric Patients

Introduction/Objective Limited literature exists regarding Transfusion Associated Circulatory Overload(TACO) in children. Its clinical expressions compared to those in adults remains to be fully explored. We report two TACO cases in children <18 months of age describing their clinical presentations compared to those in older patients. Methods/Case Report Case series Results (if a Case Study enter NA) Case 1: 1.13 kg 18 day old male neonate (27 weeks premature) with anemia requiring hemotherapy(HT). He received 35 ml aliquot of Red Blood Cells(RBCs) which he tolerated well on postoperative day(POD) 1 after bowel surgery. On POD 2, he was transfused RBCs(18 mls). Within 15 minutes of HT initiation, marked elevations in blood pressure(BP) were noted. Workup for a suspected transfusion reaction(STR) was initiated. Blood Bank studies revealed vital sign value(VSV) changes similarly seen in adults with TACO(Transfusion: 52; 2311, 2012). NT-proBNP levels post HT were markedly elevated (8,000 and 64,000 pg/ml).Case 2: 17 month old(11 kg) female with a three weeks prior history of COVID-19 admitted with fever/dehydration and subsequently diagnosed with multisystem inflammatory syndrome in children (MIS-C). Intravenous immunoglobulin(IVIG) infusion ordered and within 20 minutes of starting IVIG, she developed grunting. STR workup showed post HT BP/temperature elevations/chest X-ray with increased interstitial markings. Of note she had also received 1070 ml of intravenous fluids within 48 hours prior to HT. Elevated NT-proBNP levels pre/post HT were measured(17,121 pg/ml and 19, 824 pg/ml respectively). Symptoms improved with diuretics. Conclusion Children experiencing TACO can clinically manifest similarly as in adults with respect to BP elevations and pulmonary changes. Grunting may be an underappreciated manifestation of TACO in pts < 18 months of age. IVIG infusions used in the treatment of patients with MIS-C may present problematic fluid challenges. Recognition of and mitigation strategies for TACO risk factors in such patients may enhance HT safety in this vulnerable patient population.

A Rare Case of Chronic Suppurative Appendicitis in Neonatal Presenting as Intestinal Malrotation

Neonatal appendicitis (NA) is an extremely rare acute abdomen condition, moreover, if it is a chronic suppurative one. The definite risk factor of NA is barely unknown. The signs and symptoms are often nonspecific and appear after perforation occurs. Most of the cases were found unexpectedly during surgery suspected as other diagnoses. A 7-day-old male neonate presenting lethargic and hypoglycemia since 1 st day of life. Patient drunk breast milk right after since he was born. Meconium was produced <24 h. On the 3 rd day of hospitalization, he experienced bilious vomiting and abdominal distension, so nasogastric tube was installed. Physical examination revealed decreased bowel sound. Investigation showed leucocytosis, slightly increased procalcitonin and abdominal X-ray showed that gas distribution lasted until third part of duodenum followed by minimal gas distribution in the distal part of duodenum. The patient was suspected as distal duodenum stenosis or proximal jejunum. Intraoperatively, it was found that there was second part duodenum malrotation and open Ladd’s procedure was done. During Ladd’s procedure, a perforated appendix was also found. The histopathology result revealed that it was a chronic suppurative appendicitis. Patient was discharged in good condition 20 days after surgery. NA is a rare condition with nonspecific signs and symptoms which was usually found accidentally during surgery suspected as other diagnoses.

Congenital segmental dilatation of intestine with different morphology: A case report

Background: Congenital segmental dilatation of intestine is a rare entity characterized by a localized dilated segment of the intestine. It manifests as neonatal intestinal obstruction. Occurrence with another surgical anomaly may masquerade it and complicate the treatment course. Case Presentation: A 1-day-old male neonate with anorectal malformation underwent colostomy as first stage of the treatment. The stoma did not function postoperatively. At repeat surgery, congenital segmental dilatation of the ileum, with slightly different morphology, was found. Resection of the lesion and ileostomy were formed. Postoperative course remained uneventful. Conclusion: Congenital segmental dilatation of intestine may be missed at initial surgery. Complete surgical resection is curative.

Rodriguez syndrome with an SF3B4 gene mutation: A case report

The case was a male neonate born by emergent cesarean section due to non-reassuring fetal status at 30 weeks of gestation. His manifestations were consistent with those of Rodriguez syndrome. Molecular analysis revealed an SF3B4 mutation.

Bilateral Cryptophthalmus: First Case Report from Nepal

Introduction: Cryptophthalmus is characterized by a partial or complete casing of the eyeball by the skin. Cryptophthalmus alongside other systemic abnormalities is well-known as Fraser syndrome. It is an unusual genetic disorder with limited literature. The complexities of disease and limited experience pose challenges in its management. Case: A two-day-male neonate was brought by his parents with a complaint of swelling in the right orbital region and deformed left eye since birth. Examination revealed bilobed globular swelling in the right orbital region covered by a continuous sheet of skin from forehead to cheek with no visible ocular tissue. On the left side, there was absence of upper lid margin and eyelashes and superior symblepharon. He also had bilateral ear abnormalities and right renal agenesis. Surgical intervention was done. On the right side, removal of the globe and cyst was done. On the left side, upper eyelid reconstruction with symblepharon release was done with amniotic membrane transplantation. Conclusions: The management of cryptophthalmus is challenging. Reconstructive surgeries allow cosmesis but useful vision is rarely gained. This is the first case report from Nepal to date to the best of our knowledge.