Laryngo-Onycho-Cutaneous Syndrome (LOCS).

Shabbir Syndrome or commonly known as Laryngo-onycho-cutaneous syndrome (LOCS) is an autosomal recessively inherited syndrome, caused due to mutations in the laminin alpha-3 (LAMA3) gene. This syndrome affects the epidermal layer and results in granulation formation in the eyes, larynx, and nails. One of the most dreadful complications of this syndrome can be due to granulation formation in the larynx or sub-glottis region resulting in laryngeal stenosis and death. According to the latest Online Mendelian Inheritance in Man (OMIM) classification, LOCS has been reclassified as a subtype of Junctional epidermolysis bullosa (JEB). But it is still considered a rare syndrome with limited cases reported worldwide. In this case report, we have discussed a case of a four year old, Pakistani boy, who presented with stridor, fragile skin, and granulation of nails, with no family history of LOCS.

Heated and humidified high flow therapy (HHHFT) in extreme and very preterm neonates with respiratory distress syndrome (RDS): a retrospective cohort from a tertiary care setting in Pakistan.

OBJECTIVE: To determine the role of heated humidified high flow therapy (HHHFT) as primary respiratory support in spontaneously breathing moderate-late, very and extreme preterm neonates with respiratory distress syndrome (RDS) at a tertiary care hospital from a developing country. DESIGN: Retrospective cohort study. SETTING: Neonatal intensive care unit of Indus Hospital and Health Network, Karachi, Pakistan. PATIENTS: All preterm neonates with RDS and who received HHHFT as primary respiratory support were included retrospectively, while neonates with orofacial anomalies, congenital heart and lung diseases other than RDS, abdominal wall defects, encephalopathy, congenital pneumonia and received continuous positive airway pressure or invasive ventilation were excluded. INTERVENTIONS: HHHFT as primary respiratory support for RDS. MAIN OUTCOME MEASURES: Effectiveness, duration, failure rate and complications of HHHFT as a primary respiratory support in moderate-late, very and extremely preterm neonates were evaluated. RESULTS: The cohort included 138 neonates during a period of 12 months. The median gestational age was 32 weeks, and the median birth weight was 1607 g. Grade 1-2 RDS was seen in 97%, surfactant instillation was done in 10.8% and HHHFT was provided in all the neonates as primary respiratory support. The total duration of HHHFT support was <1 week in 94% of neonates. Bronchopulmonary dysplasia and pneumothorax until discharge or death were observed in one neonate, haemodynamically significant Patent Ductus Artriosus (HsPDA) in two neonates and intraventricular haemorrhage Grade ≥2 in five neonates, while only one neonate died. CONCLUSION: This study appears to show that HHHFT is a simple, safe, efficient and cheap mode of primary respiratory support that can be given to spontaneously breathing moderate-late, very and extremely preterm neonates with RDS, especially in low- or middle-income countries.

Lemierre's syndrome in a child.

Lemierre's Syndrome (LS) is a rare syndrome most frequently due to an anaerobic organism, Fusobacterium Necrophorum. It is commonly a complication of an acute oropharyngeal infection, but there are exceptions to its presentations. In our case the cause of LS was otitis media caused by Streptococcus species. This is a rather unusual presentation of LS. LS is caused due to septic complications of oropharyngeal infections, which lead to thrombophlebitis of internal jugular vein leading to thrombosis formation. In this case report, we present a case of Lemierre's syndrome in a seven-year-old male child. The patient presented with high grade fever spikes and earache, which were unresponsive to oral antibiotics. LS was diagnosed in this patient on the basis of clinical, microbiological and radiological findings. After the diagnosis, treatment involved using broad spectrum antibiotics and anticoagulants, followed by surgery. Though role of anticoagulants is controversial in LS, but there is no specific guideline contraindicating the use of anti-coagulants. In our case, timely diagnosis and management enabled us to discharge the patient without any symptoms.

A Case of Early Diagnosis of Turner Syndrome in a Neonate.

Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in approximately 1 in 2000 live birth. It occurs when the X chromosome is partially or completely missing in females caused by monosomy or structural abnormalities of the X chromosome. It is mainly diagnosed in late childhood or adolescent age and rarely identified during the neonatal period. It is characterized by short stature, webbed neck, lymphedema of extremities, widely spaced-out nipples, and cubital valgus. Early diagnosis of TS allows for appropriate and timely initiation of therapy with comprehensive care. We report a case of a neonate presented with the complaint of edema of feet since birth and syndromic features. TS was diagnosed by the chromosomal analysis, which demonstrated a gene karyotype of 46.X,i(X)(q10){20}.

Cerebral Cavernous Angioma Associated with Klippel Trenaunay Syndrome Treated with Gamma Knife Radiosurgery: Case Report and Literature Review.

Klippel Trenaunay syndrome (KTS) is a rare, sporadic congenital syndrome characterized by cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. It is genetically heterogeneous, and its clinical presentation is variable. We report the case of a 13-year-old male with KTS, who presented with a cerebral cavernous angioma in the corpus callosum. To the best of our knowledge, this is the first reported case of its kind from Pakistan and the only known case in the literature of KTS to be treated with stereotactic radiosurgery. The possibilities of shared genetic pathways between KTS and cavernous angiomas and the need for neurovascular scrutiny in patients with this syndrome are discussed.