Neonate with intractable seizures and metabolic acidosis: an unusual case of type-1 herpes simplex encephalitis-diagnostic and management challenges

Neonatal Herpes simplex virus [HSV] infection is usually caused by type 2 virus following maternal peripartum genital HSV infection. Type 1 HSV usually affects infants after 3 months of age. Neonatal HSV infection present as skin, eye and mouth disease [SEM disease]; affect the central nervous system [CNS disease] or involve multiple organs [Disseminated disease]. Illustrative case: A full term male baby; birth weight of 3.25 kg, born to a primiparous mother with uneventful intrapartum and postpartum period and normal physical examination. At 20 days of life, the neonate presented with lethargy, poor feeding and later developed generalized tonic-clonic seizures. Initial workup showed metabolic acidosis; neuro-sonogram showed diffuse cerebral edema. Seizures were not controlled initially with intravenous phenobarbitone, phenytoin and pyridoxine. On starting intravenous midazolam baby developed poor respiratory efforts and was intubated. Serum ammonia and lactate levels were mildly elevated. Lumbar puncture attempted after seizure control showed 93 WBCs, 90% lymphocytes, normal glucose and mildly elevated proteins. With possibility of viral encephalitis; intravenous acyclovir was started. EEG showed PLEDS and CSF HSV-PCR detected Type 1 HSV. This case illustrates the nonspecific presentation of HSV infection in the neonatal period without history of HSV in the mother and challenges faced during the management. Early initiation of acyclovir reduces HSV associated morbidity and mortality in neonates

rare case of tyrosinemia presenting with abdominal distension with shock

Tyrosinemia type I is the most severe disease of the tyrosine catabolic pathway resulting from deficiency in fumaryl acetoacetate hydrolase [FAH] leading to elevation of tyrosine in liver, kidney and peripheral nerves. It is characterized by hepatic failure, cirrhosis, renal dysfunction, hepatocarcinoma, and neurologic crisis. The estimated prevalence of type I tyrosinemia worldwide is <1 in 100,000. We present a rare case of tyrosinemia presenting with abdominal distension and shock. A two-month old male child of 2[nd] degree consanguineous marriage was born prematurely and was small for gestation [SGA baby]. She was noted to have neonatal hyperbilirubinemia in the immediate neonatal period. Weight gain remained poor in spite of adequate feeding and supplementation. Persistent abdominal distension was noted, and anti-flatulence drugs were administered for the same, with no improvement noted. X-ray showed gaseous distension of abdomen. Tests for hypothyroidism and Hirschisprung disease were normal. The baby had persistent vomiting; ultrasonography was normal. After one month she developed cold clammy extremities with thread pulse, poor urine output persistent vomiting with significantly distended abdomen. Investigations revealed E-coli positive UTI for which appropriate antibiotics were started. However, the condition of the baby deteriorated and baby developed metabolic acidosis which was initially attributed to resistant E-coli sepsis. On investigating further, an elevated level of alpha fetoprotein [AFP] was noted. The other reports revealed significant coagulopathy and the algorithmic work up revealed tyrosinemia. Tyrosinemia type 1 should be differentiated from other causes of hepatitis and hepatic failure in infants

Rare case of hemophagocytic lymphohistiocytosis: a case report

A two-month old infant was admitted to our hospital with history of fever and cough. He was active and playful with normal systemic examination. He was started on antibiotics because the C-reactive protein [CRP] was high. Over the next few days he deteriorated with persisting fever, altered sensorium and hepatomegaly. Inspite of using third line antibiotics, the CRP kept increasing and the child showed no signs of improvement. A possibility of Hemophagocytic Lymphohistiocytosis [HLH] was considered. Ferritin was high and so the child was referred to a tertiary centre for further treatment. Bone marrow biopsy confirmed the diagnosis of HLH. HLH is a clinical syndrome of hyper inflammation, and uncontrolled and ineffective immune response. It could be primary where genetic mutations have been demonstrated or secondary to infection, malignancy or metabolic condition. Criteria have been laid done for the diagnosis of HLH. This condition should be considered when there is continued deterioration in spite of maximal supportive care

Rare case of hemophagocytic lymphohistiocytosis: a case report

A two-month old infant was admitted to our hospital with history of fever and cough. He was active and playful with normal systemic examination. He was started on antibiotics because the C-reactive protein [CRP] was high. Over the next few days he deteriorated with persisting fever, altered sensorium and hepatomegaly. Inspite of using third line antibiotics, the CRP kept increasing and the child showed no signs of improvement. A possibility of Hemophagocytic Lymphohistiocytosis [HLH] was considered. Ferritin was high and so the child was referred to a tertiary centre for further treatment. Bone marrow biopsy confirmed the diagnosis of HLH. HLH is a clinical syndrome of hyper inflammation, and uncontrolled and ineffective immune response. It could be primary where genetic mutations have been demonstrated or secondary to infection, malignancy or metabolic condition. Criteria have been laid done for the diagnosis of HLH. This condition should be considered when there is continued deterioration in spite of maximal supportive care

Autoamputation of congenital hairy polyp in neonate with stridor and respiratory failure

Hairy polyp of the oronasopharynx is an uncommon developmental malformation that is most frequently seen as a pedunculated tumor in the neonate. Derived from the ectoderm and mesoderm, this benign tumor generally has been classified as dermoid. We describe a neonate with a hairy polyp originating from the right lateral pharyngeal wall causing significant respiratory distress with cyanosis and stridor immediately after birth. Symptoms in the neonate disappeared following autoamputation of the mass. To our knowledge, this is the third case described in literature, with full following autoamputation of a hairy polyp

Aortopulmonary septal defect with coarctation of arota in a neonate with unilateral renal agenesis: a case report

Aortopulmonary septal defect [or window] is an uncommon congenital cardiac defect characterized by a deficiency in the septum between the aorta and the pulmonary artery. It is a rare cardiac defect comprising about 0.1-0.3% of congenital heart diseases in children. In about one half of affected patients, it presents as an isolated defect and in the other half, presents as a more complex heart disease in conjuction with another associated cardiac defect. A patent ductus arteriosus is seen in almost three fourths of patients and an interrupted aortic arch or severe coarctation is present in 10-15%. There have been few reports of aortopulmonary window presenting in patients affected by other syndromes, such as VACTERL association. If left untreated, it results in irreversible pulmonary vascular changes and early mortality. The prognosis for isolated aortopulmonary septal defect, with early surgical intervention, is good. In the presence of associated cardiac disease, the prognosis will depend on the nature and severity of the other lesions. An aortopulmonary window does not spontaneously close, and surgical repair is mandatory to prevent the development of pulmonary vascular obstructive disease. Most centers use techniques that involve cardiopulmonary bypass. Aortopulmonary septal defect is a rare defect, and its occurrence in association with extracardiac malformations [such as in VACTERL association] is even rarer. Here we report a case of aortopulmonary septal defect associated with unilateral renal agenesis. A five day old Indian male neonate with unilateral renal agenesis presented in the ER with cardiogenic shock. He was brought by his parents with complaints of poor feeding. A two-dimensional echocardiography revealed an aortopulmonary septal defect with coarctation of the aorta