Pokhraj P. Suthar

Radiological Features of Long-Standing Hypoparathyroidism.

Summary Background Idiopathic hypoparathyroidism is an extremely rare endocrinal disorder with a prevalence of 37 per 100,000. Herein we presented a case of a 30-year-old male who came with symptoms of muscle weakness, carpopedal spasms and limitation of movement which gradually progressed over 8 years. Case Report A 30-year-old male patient presented in an outpatient department of a tertiary care centre with a complaint of severe pain in both hip joints. He had generalized muscle weakness, facial discomfort, recurrent episodes of carpopedal spasms and crampy abdominal pains. On clinical examination, the patient had Chvostek sign and Trousseau sign. Biochemical tests revealed hypocalcemia, hyperphosphatemia and hypomagnesemia with low plasma parathyroid hormone level. X-ray of the pelvis and spine revealed spondylarthropathic changes of long-standing hypoparathyroidism. Computed Tomography of the brain revealed bilateral basal ganglia calcifications. The patient was treated with intravenous calcium gluconate, magnesium and oral vitamin D3. On follow-up the patient showed improvement of muscle weakness and carpopedal spasm with near-normal biochemical parameters. However, there was no improvement in symptoms related to spondyloarthropathy. Conclusions Idiopathic hypoparathyroidism is a rare endocrine disorder with clinic and biochemical features of hypocalcemia. Long- standing hypoparathyroidism can cause spondyloarthropathic changes closely resembling ankylosing spondylitis and DISH. Skeletal changes of long-standing hypoparathyroidism are irreversible. If left untreated, life-threatening complications like cardiac arrhythmias and broncholaryngospasm may occur.

Congestive Myelopathy due to Intradural Spinal AVM Supplied by Artery of Adamkiewicz: Case Report with Brief Literature Review and Analysis of the Foix-Alajouanine Syndrome Definition.

Summary Background Spinal arteriovenous malformations (AVMs) can lead to development of congestive myelopathy (Foix-Alajouanine syndrome). Spinal AVMs are rare and so is this syndrome. Diagnosis is often missed due to its rarity and confusing definitions of the Foix-Alajouanine syndrome. Case Report We report a case of a 47-year-old male patient suffering from this rare syndrome with an AVM arising from the artery of Adamkiewicz, which is another rarity. Our patient was treated by embolization of the lesion with 20% glue, after which he showed mild improvement of symptoms. We also present a brief review of literature on spinal AVMs and elucidate the evolution of the term Foix-Alajouanine syndrome. Conclusions Use of the term “Foix-Alajouanine syndrome” should be restricted to patients with progressive subacute to chronic neurological symptoms due to congestive myelopathy caused by intradural spinal AVMs. CT angiography should supplement DSA as preliminary Imaging modality. Patients may be treated with surgery or endovascular procedures.

A Classic Case of Tuberous Sclerosis with Multisystem Involvement Including Giant Bilateral Renal Angiomyolipomas Presenting as Massive Hematuria.

Summary Background Tuberous Sclerosis (TSC) also known as Bourneville disease is a neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a high rate of spontaneous mutation. It is the second most common neurocutaneous syndrome after neurofibromatosis. This disease demonstrates a widespread potential for hamartomatous growths in multiple organ systems. Case Report We report a case of a 36-year-old female with TSC presenting as massive hematuria with underlying giant bilateral renal angiomyolipomas (AML) with estimated total tumor burden of more than 8 kg which is to the best of our knowledge the highest ever reported. The patient also had lymphangioleiomyomatosis and lesions in the brain, skin, teeth and bones. Conclusions TSC has a wide variety of clinical and radiologic manifestations. It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious. Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria.

Incidental diagnosis of liver tuberculosis in a patient with jaundice.

A 30-year-old afebrile woman presented with anorexia, yellowish discolouration of the sclera and bilateral pedal oedema. Blood investigations revealed severe anaemia, raised erythrocyte sedimentation rate and thrombocytopaenia. Liver function tests were abnormal with raised bilirubin, alanine transaminase and prothrombin time. Chest roentgenogram was negative for tuberculosis. Abdominal ultrasonography (USG) revealed coarsened echotexture of the liver with surface nodularity. Contrast-enhanced CT scan revealed heterogeneity with surface and parenchymal nodularity scattered throughout the liver parenchyma. USG-guided liver biopsy was performed, which showed changes in granulomatous hepatitis with positive Ziehl-Neelsen staining for acid-fast bacilli. The patient was started on antituberculous drugs. After completion of the antituberculous regimen, the patient made an uneventful recovery with normal range of aspartate aminotransferase, serum albumin and prothrombin time. In summary, isolated liver tuberculosis is rare and a high index of suspicion is required in a patient from an area where tuberculosis is endemic, after excluding other common diffuse liver pathologies.

Incidental detection of ascariasis worms on USG in a protein energy malnourished (PEM) child with abdominal pain

A 10-year-old child presented with dull aching periumbilical abdominal pain for 15 days. The child was not gaining weight despite a good appetite. Physical examination of the child revealed grade-I protein energy malnourishment (PEM) according to IAP (Indian Academic of Paediatrics) classification. The rest of the systemic examination was normal. Routine blood investigation revealed anaemia with eosinophilia. Abdominal ultrasonography did not show any abnormality with curvilinear transducer (3.5–5 MHz), however, linear ultrasound transducer (7.5–12 MHz) with harmonic tissue imaging showed worms in the lumen of the small intestine with curling movement on real time scanning. Stool examination for the eggs of ascariasis was positive. The patient was treated with antihelminthic drugs. Dietary modification for the PEM was advised. After 3 months of treatment, the patient improved and stool examination for Ascaris was negative on follow-up.

Lingual thyroid in a young female: role of imaging

A 12-year-old girl presented with dysphagia and a feeling of fullness in the throat. On examination a midline smooth, rubbery and reddish mass was seen at the base of the tongue, which moved with deglutination and protrusion of the tongue. A thyroid function test was within normal limits. On ultrasonography, absences of thyroid gland in its normal position with a smooth-contoured, round-shaped nodular mass at the tongue base with internal vascularity within. The mass was hyperdense and homogeneously enhancing on postcontrast. A clinical diagnosis of ectopic lingual was made based on the ultrasonography and CT scan features.

Membranous IVC Obstruction Presenting with Antegrade/Retrograde Respiratory Flow in the Intrahepatic Segment in Doppler Imaging and Prostatic and Urethral Congestion

Summary Background Obstruction of the inferior vena cava (IVC) is infrequent, membranous obstruction of the IVC (MOIVC) being one of its rare causes. Early diagnosis is important, as it can lead to hepatic congestion, cirrhosis and Budd-Chiari syndrome (BCS) and can predispose to development of hepatocellular carcinoma (HCC) in severe cases. Case Report We report a case of membranous IVC obstruction at the junction of hepatic and suprahepatic segments in a young male with extensive collateralization and venous aneurysms. Unique findings involved antegrade and retrograde flow during respiration in the upper part of intrahepatic IVC proximal to a large collateral vein as well as prostatic and urethral congestion leading to intermittent urinary hesitancy, which have not yet been described in such cases. Conclusions MOIVC is a rare cause of IVC obstruction with typical radiological features. Early diagnosis and management is required due to risk of cirrhosis and HCC. Antegrade and retrograde flow may be seen in incomplete MOIVC above the level of a large collateral vein and it may lead to prostatic and urethral congestion.

Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

Summary Background Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. Case Report A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). Conclusions Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity.

Top of Basilar Artery Syndrome.

A 45 years old male presented in Department of Medicine at the Shree Shayaji General Hospital with sudden onset bilateral ptosis, dilatation of the pupil and paresis of extraocular muscles. There were area of restricted diffusion on diffusion weighted images with corresponding low ADC (Apparent Diffusion Coefficient) value in periaqueductal region, oculomotor nucleus and medial thalami suggestive of acute infract. In MR cerebral angiographic image filling defect is seen in the basilar artery suggestive of thrombosis [Table/Fig-1,​,22,​,3].3]. Top of the Basilar Artery Syndrome is also known as a Rostral Brainstem Infarction. It is due to the thromboembolic occlusion of the top of the basilar artery. Risk factors for the thrombosis are hypertension [1], diabetes mellitus [2], obesity [2], hyperhomocystinemia [3], and excessive alcohol intake. It may be secondary to the cardiogenic emboli like mural thrombi in myocardial infarction and atrial fibrillations or valvular thrombi in infective endocarditic and valvular heart disease. Hypercoaguable states like antiphospholipid antibodies [4], protein C deficiency [4], protein S deficiency [4] may also leads to the thrombotic events. Small vessel vaculities in sickle cell disease may be associated with it. Bilateral tha lamic ischemia occurs due to occlusion of perforator vessels. Clinically patient develops symptoms like visual and oculomotor deficits and behavioral abnormalities. However, motor dysfunction is often absent [5]. CT angiography, MR angiography and catheter angiographic are the imaging modality use to confirm the finding and demonstrate a filling defect [6]. Prognosis in patient with bilateral ocular palsy is poor. [Table/Fig-1a,b]: Axial section of diffusion weighted MR image shows (A) area of restricted diffusion in oculomotor nuclei region in midbrain (open white arrow) (B) area of restricted diffusion in bilateral medial thalami (open white arrow) [Table/Fig-2a,b]: Axial section of Apparent Diffusion map shows (A) corresponding low ADC value in oculomotor nuclei region in medulla (black solid arrow) (B) in bilateral medial thalami (solid white arrow) [Table/Fig-3a,b]: MR angiographic images shows filling defect in the basilar artery suggestive of thrombosis Top of the basilar artery syndrome is occurring due to thrombotic occlusion of the basilar artery. Patient presented with visual and oculomotor deficit and behaviour abnormalities. MR angiography demonstrate filling defect in the basilar artery.

Unusual presentation: fracture neck femur in 18 months old child

An 18 months old child was brought to the emergency department with alleged history of trauma due to hit by two wheeler and sustained injury over right hip. Child was not able to move the right lower limb. Physical examination of child revealed contusion over right hip region and injury over perineal region. There was no active vaginal bleeding. Rest of the systemic examination was normal. Routine blood was normal. On X-ray of pelvis with both hip showed fracture of neck femur on right side without any pelvic injury. Patient was treated with hip spica cast and complete bed rest for 1 month. After 1 month of the treatment, on follow-up the patient was able to weight bear and fractured was united on X-ray.