Ultrasound features of congenital diaphragmatic hernia are:

Visualisation of abdominal organs in the chest
Absence of normally positioned stomach
Mediastinal displacement
Small abdominal circumference
Polyhydramnios

Conditions causing wormian bone formation are:

Rickets
Hypothyroidism
Hypophosphatasia
Cleidocranial dysostosis
Osteogenesis imperfecta

Causes of paralytic FIS:

Guillian Barre syndrome
Spinal muscular atrophy
Myasthenia gravis
Myotonic dystrophy
Infant botulism

Causes of non paralytic FIS:

 Down’s syndrome
Cerebral palsy
Malnutrition
Turner syndrome
Marfan syndrome
Tay Sachs disease
Prader Willi syndrome

(FIS = Floppy Infant Syndrome)

The most common variant of nephrotic syndrome in children in Minimal change nephrotic syndrome. In case of MCNS, there is no need to do a renal biopsy before starting treatment. But in certain atypical features at onset, it is necessary to do a renal biopsy. They are:

Age of onset less than 12 months
Gross hematuria
Persistent microscopic hematuria
Elevated blood pressure
Low blood C3
Impaired renal function
Proteinuria despite appropriate steroid therapy

Knee chest position

Compresses femoral artery – increases afterload
Decreases return of deoxygenated blood from the muscles

Humidified oxygen
Morphine 0.1 to 0.2 mg/kg SC

Decreases pulmonary vascular resistance
Blunts the sympathetic drive

Propranolol

Relieves infundibular spasm by negative ionotropic action

Vasopressors (methoxamine IV or IM)

Increases afterload

Correction of anemia
Consider corrective surgery

Sanctuary sites in acute lymphoblastic leukemia refers to areas where the leukemia cells are protected from the systemic chemotherapy
CNS and testis are the important sanctuary sites for ALL
These leukemic cells can produce relapse later and hence should be taken care of

CNS prevention therapy for Acute Lymphoblastic Leukemia:

As the chemotherapeutic agents do not cross the blood brain barrier, intrathecal methotrexate and cranial irradiation is used to kill leukemia cells residing in the CNS
This results in increased survival rates but have also causes neurotoxicity and increased risk for CNS malignancies
To decreased neurotoxicity, …

Posterior urethral valve is the most common cause of obstructive uropathy in a male child.
They are simply folds of urothelium
They act as flap valves – blocks flow of urine – yet allows passage of a catheter easily
Clinical presentation

Obstructive uropathy

Diagnosis

Voiding cystourethrogram
Endoscopy

Management

Transurethral ablation of valve leaflets
If the creatinine levels are elevated, vesicostomy has to be done first to bring down creatinine levels before attempting ablation

Tracheo esophageal fistula refers to an abnormal connection between the trachea and the esophagus. It is associated with polyhydramnios in mother and single umbilical artery in the newborn.
Clinical features:

Frothy discharge from baby mouth, drooling of saliva, aspiration, choking, cyanosis
Types – A, B, C, D, H
Most common – C type (85%) followed by A type

Complications:

Pneumonia
Gastro esophageal reflux disease
Atelectasis

Diagnosis:

8 or 10 F size orogastric tube cannot be passed into stomach
Xray after instillation of air

Management:

Maintenance of upright posture
Frequent suction of esophageal pouch
Intravenous fluid administration
Antibiotics
Surgical correction should be done as soon as possible

Prognostic factors:

Early …

A bucket handle malformation is a clinical feature seen in perineal fistula
Perineal fistula is a ‘low’ type of anorectal malformation
Here the rectum opens to the skin through a small opening anterior to the normal position of the anal sphincter
In some cases, a bridge of skin is seen across the fistula
A probe can be passed under this skin tag
Such a skin tag is known as ‘bucket handle malformation’

Most common tumour in newborn
Incidence – 1 in 35000
80% female
Remnant of primitive streak – pluripotent stem cells – tissues from all 3 germ cells with incomplete differentiation
Diagnosis by antenatal USG
Surgical excision, good prognosis