Anjali Prakash

Tectocerebellar Dysraphia and Occipital Encephalocele : An Unusual Association with Abdominal Situs Inversus and Congenital Heart Disease

Tectocerebellar dysraphia is a rare constellation of malformations comprising of occipital encephalocele, aplasia of the cerebellar vermis and deformity of the tectum. We describe a 7 month old infant who presented with tectocerebellar dysraphia associated with double outlet right ventricle, pulmonary stenosis and abdominal situs inversus. This association has not been reported in the literature, to the best of our knowledge.

Pantothenate Kinase Associated Neurodegeneration (Hallervorden - Spatz Syndrome)

Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.

MDCT imaging of the stomach: advances and applications

The stomach may be involved by a myriad of pathologies ranging from benign aetiologies like inflammation to malignant aetiologies like carcinoma or lymphoma. Multidetector CT (MDCT) of the stomach is the first-line imaging for patients with suspected gastric pathologies. Conventionally, CT imaging had the advantage of simultaneous detection of the mural and extramural disease extent, but advances in MDCT have allowed mucosal assessment by virtual endoscopy (VE). Also, better three-dimensional (3D) post-processing techniques have enabled more robust and accurate pre-operative planning in patients undergoing gastrectomy and even predict the response to surgery for patients undergoing laparoscopic sleeve gastrectomy for weight loss. The ability of CT to obtain stomach volume (for bariatric surgery patients) and 3D VE images depends on various patient and protocol factors that are important for a radiologist to understand. We review the appropriate CT imaging protocol in the patients with suspected gastric pathologies and highlight the imaging pearls of various gastric pathologies on CT and VE.

Abdominal cocoon – A rare case of intestinal obstruction: A report of two cases

We present the imaging findings in 2 adolescent girls with abdominal cocoon formation, a rare cause of intestinal obstruction. It may be primary/idiopathic or secondary in nature and is characterized by small bowel encapsulation. Familiarity with the imaging findings and a high index of suspicion helps in reaching the diagnosis pre-operatively in this rare condition and hence planning surgical management.

Bilateral spontaneous salivary otorrhoea: Case report and a review of the literature

Spontaneous salivary otorrhoea is an extremely rare clinical entity. Most of the times, salivary otorrhoea results from various forms of trauma. It has also been attributed to the patent foramen of Huschke, and fissures of Santorini. Here, we present a rare case of an 8 year old child presenting with salivary discharge from both the ears. The diagnosis was established on the basis of biochemical and radiological investigations. The patient was managed by surgical exploration and ligation of the fistulous tract.

Left atrial appendage aneurysm: an unusual cause of hematuria with stroke.

Sir, Left atrial appendage(LAA) aneurysms are asymptomatic and rare in pediatric population, being diagnosed after the second decade [1]. Most adults are asymptomatic while children can present with cardiac arrest, respiratory distress, or cardiac tamponade. Systemic thromboembolism presenting as renal infarct or stroke as a sequale are rarer. A 9 yold child presented with complaints of fever, episode of painless gross hematuria, anasarca and decreased urine output. There was no history of dysuria, flank pains or abdominal lump. There was a history of right hemiparesis with aphasia lasting for 10–15 min followed by complete spontaneous remission 10 d after hematuria had subsided. He presented with altered sensorium, an episode of right complex partial seizure, right hemiparesis and decreased verbal output. Examination revealed tachycardia, mild pallor, pedal edema and hepatosplenomegaly. He was irritable, not interacting with parents with no apparent cranial nerve deficits with marked increase in tone and sustained ankle clonus on right side. Investigations revealed cardiomegaly with elevation of the left main bronchus suggestive of left atrial enlargement (Fig. 1). Urine microscopic examination revealed mainly dysmorphic hematuria. CT head revealed hypodense areas in bilateral gangliocapsular regions suggesting an infarct. Lipid profile, C3, ANA and Koch’s workup were not contributory. Ultrasound revealed bilateral enlarged kidneys with increased cortical echogenecity. Echocardiography suggested the possibility of a pericardial cyst with ejection fraction of 35 %. A transthoracic echocardiogram (Fig. 2) revealed a large LAA aneurysm of size 5.2×5.6 cm, communicating with the left atrial body through a narrow neck with a mobile clot. MRI demonstrated a large discrete sac lateral to the left atrium and the left ventricle, communicating with the left atrium containing a thrombus. After initiation of low molecular weight heparin aneuresectomy was done. He showed neurological improvement. Our case presented with stroke and thromboembolic phenomena manifesting as renal infarct and right partial seizures preceded by a Transient ischemic attack (TIA). Patients with renal infarction presented commonly with abdominal (57.9 %) symptoms, flank pain/tenderness (50 %), elevated serum LDH (92.1%) proteinuria (76.3 %), with 50% having hematuria at initial presentation [2]. The left atrium S. Kapoor (*) :V. B. Ghosh Department of Pediatrics, Maulana Azad Medical College, Bahadur Shah Zafar Marg, New Delhi 110002, India e-mail: drseemakapoor@gmail.com