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Background: High frequency oscillatory ventilation (HFOV) is a newer mode of ventilation in neonates. The objective of this study was to study the efficacy of rescue HFOV in improving the oxygenation and ventilation in neonates with acute respiratory failure after failing synchronised intermittent mandatory ventilation (SIMV).Methods: A prospective observational study was conducted over a period of 12 months. Neonates with respiratory distress requiring ventilation on SIMV mode based upon the unit protocol were included in the study. Babies who have failed on SIMV were then switched over to HFOV. The primary outcome measures were oxygenation index (OI), ventilation: alveolar-arterial oxygen gradient (AaDO2) and duration of ventilation with a secondary outcome measure of mortality and complications associated with ventilation.Results: A total of 65 babies were ventilated out of which 11 babies required high frequency oscillatory ventilation as per the study protocol. Of 11 neonates who were oscillated eight (72.7%) improved and survived. Among the babies who survived OI<13 was seen in a total of six babies in the first three hours of oscillation and OI<10 was seen in two babies. There was no statistically significance difference in the incidence of intra-ventricular haemorrhage (IVH) and pneumothorax between HFOV and SIMV group.Conclusions: High frequency oscillatory ventilation was found to improve short term oxygenation and ventilation in neonates who failed SIMV. HFOV is not associated with increased risk of pneumothorax or IVH.

Glycogen storage disease type II, also called Pompe disease or acid maltase deficiency is a disorder of muscle glycogenoses with a wide range of clinical manifestations. It is one of the disorders of glycogen metabolism caused by a deficiency of lysosomal acid α-1, 4-glucosidase (acid maltase) resulting in lysosomal glycogen accumulation in cardiac, skeletal and smooth muscle cells. The pattern of inheritance is autosomal recessive with a gene for enzyme located on chromosome 17q25.2.It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which enzyme replacement therapy has been approved. We report a case of four month old female child, born to primi gravida third degree consanguineous couple, who presented with history of respiratory illness, hypotonia and developmental delay. Baby was sick needing mechanical ventilation and inotropic support. Echocardiography showed concentric LV hypertrophy with no LV outflow tract obstruction. In view of consanguinity, developmental delay, hepatomegaly and cardiomegaly, provisional diagnosis of a storage disorder, probably infantile Pompe disease was considered. Dried blood spot for α-1, 4-glucosidase enzyme assay confirmed the same. Enzyme replacement therapy was considered, but child progressed to cardiac failure needing prolonged ventilation and expired on day 8 of admission. Whole genome exome sequencing revealed 2 mutations which confirmed the diagnosis. Infantile Pompe disease is fatal without treatment. High index of suspicion and early diagnosis may help in taking advantage of emerging therapeutics, such as ERT which is capable of changing the natural history of the disease.

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<p class="abstract">Pituitary stalk interruption syndrome (PSIS) is included under the spectrum of midline abnormalities and is considered as a part of the holoprosencephaly (HPE) wide spectrum. Genetic basis has been identified in few familial cases. PSIS have anterior pituitary hormone deficiencies and a wide spectrum of clinical presentation. The typical clinical manifestations of PSIS are growth retardation, hypoglycemia and delayed puberty. We report a case of PSIS with hyponatremic seizures as initial presentation. Two-year-old girl with growth and development appropriate for age, presented with acute respiratory infection and generalized tonic clonic seizures.  There was history of similar illness two weeks prior and was treated for hyponatremia. Child had euvolemic hyponatremia and symptomatic hypoglycemia.  Serum cortisol level was observed to be low and thyroid function test was abnormal. MRI brain showed hypoplastic anterior pituitary and ectopic posterior pituitary (hallmark of PSIS) and absent septum pellucidum. Child was treated with   hormone replacement therapy with hydrocortisone and thyroxine. Child improved and is on follow up. Clinical suspicion, early diagnosis and treatment prevent worsening of endocrine impairment, permanent short stature and associated morbidities with PSIS.</p>