Year 2017, Volume 1 - Issue 1

No Abstract

Background: Fibroadenomas are quite common benign lesions in the adolescent age group but it is a cause of concern for the individual and the family. These may remain asymptomatic or may present with pain. Aesthetic distortion of the breast symmetry may lead to psychosocial morbidity in adolescent females. The diagnosis is initially made by the ultra sound. Magnetic Resonance Imaging is done in some cases where the underlying pathology is in doubt. Case presentation: We present a 21 years old young female, university student who reported with complaints of a tender mass in the left breast. Ultrasound (US) of breast showed well circumscribed focus indicating benign nature of the lump. Patient was very anxious. Magnetic resonance imaging (MRI) examinations proved the lesions as fibroadenomas. Conclusion: There is always dilemma for the correct evaluation of the breast lumps but with the help of available cross sectional radiological armamentarium, it is possible to come closer to the diagnosis.

Background: Many children with multiple congenital organ defects have a genetic etiological basis. Periventricular nodular heterotopia (PVNH) is a neuronal migrational disorder that can be seen in isolation or in association with other neurological and non-neurological features. Mutations in the FLNA gene may result in X-linked dominant bilateral PVNH, a condition that is predominately seen in females due to its in-utero lethality for males. Associated features may include cardiovascular defects and thrombocytopenia. Case presentation: We present an 8 year old girl with multiple congenital heart defects and longstanding unexplained low platelets counts. There were no neurodevelopmental concerns but she was incidentally found to have bilateral PVNH. Targeted genetic testing confirmed a mutation in the FLNA gene. Conclusion: Testing for mutations in this gene in any child with bilateral symmetrical PVNH is recommended. If mutations are found, then other associations should be searched for if not already evident.

Background: Glutaric aciduria type 1 (GA1) is a rare autosomal recessive neurometabolic disorder caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH). If left untreated, it leads to accumulation of neurotoxic metabolites leading to poor neurological outcomes characterized by encephalopathic crises, subdural effusions and extrapyramidal features. Case presentation: We hereby report a consanguineous Sudanese family in which the father and two children were affected whilst the mother was an asymptomatic carrier. All had a novel guanine insertion in position c.1173_1174 (c.1173dupG), resulting in a frameshift and a stop codon downstream (p.Asn392Glufs4X). Conclusion: To our knowledge, this GCDH variant has not been previously reported. Genetic testing should be made widely available in communities where consanguinity is prevalent. This will allow detection of new pathogenic gene variants.

Background: Pyramidal lobe is remnant of thyro-glossal duct and is seen in 15 - 75% of patients arising upwards from right lobe, left lobe or isthmus of thyroid gland. Hot nodule is a common thyroid pathology but hasn't been reported in the pyramidal lobe of thyroid gland. Case presentation: A female patient, 20 years of age presented in outdoor department with complaint of lump in front of the neck. After clinical examination, thyroid scan was advised with other investigations. An ultrasound evaluation showed a single 26mm nodule with increased flow on color doppler in the pyramidal lobe arising from right half of isthmus. A radionuclide (99mTcO4) thyroid scan showed focal intense uptake adjacent to the medial border of right lobe of thyroid in clinically palpable nodule. Patient was euthyroid clinically and biochemically. Conclusion: Hot nodule in the pyramidal lobe of thyroid gland is a unique case. It has not been reported previously in literature. This will add to the list of differential diagnosis for lump in front of the neck and should always be kept in mind to avoid burden of undue investigation on patient.

Background: Epidermodysplasia verruciformis is a rare, inheritable disease characterized by an unusual susceptibility to infection with specific types of human papillomavirus and a greater propensity for developing malignant skin tumors. Case presentation: A 55-year old male was presented with complaint of painless, hard growth extending from his toe nail for the last one year. He was diagnosed as a case of Epidermodysplasia Verruciformis followed by Mohs surgical procedure. Conclusion: Epidermodysplasia Verruciformis is an autosomal recessive genetic disorder and it predisposes patients to widespread papilloma viral infection. This might be considered as a model of cutaneous human papilloma virus oncogenesis. Generally, Epidermodysplasia Verruciformis reveals an autosomal receding pattern of inheritance. Prolonged exposure to sunlight, living in high altitudes and outdoor occupations are the known risk factors to malignant deterioration of EV lesions.

Background: Osteoid osteomas are benign lesions of osteoblastic activity. These are frequently found in many instances where there is pain of unexplainable background. But many a times the entity is found as incidental finding while the patient is being evaluated for some other reason. Case presentation: We present 15 years old boy who reported for backache of two months duration. This used to get worsened at night time and with some relief with non-steroid anti-inflammatory drugs (NSAID). Plain X-ray did not show any abnormality. The child underwent magnetic resonance imaging (MRI) which has given some clue for further evaluation by non-contrast computerized tomography (NCCT) of lumbosacral region. This had brought out the diagnosis which was subsequently confirmed by radio-nuclear studies. Conclusion: Pediatric age group backache is a rare phenomenon and thorough search is required to investigate the cause. Various imaging modalities often locate the pathology if evaluated properly. This helps in the management of the case.

Background: Ectopic thyroid in presence of multinodular goiter is a rare entity. We present case of a patient with a multinodular goiter located in the anterior neck with a separate ectopic thyroid in the submental region. Case presentation: We describe a 38 year old female who visited nuclear medicine department for thyroid scanning. She underwent total thyroidectomy 28 days back due to MNG (Multinodular goiter) with compressive symptoms. After surgery, she developed a swelling, located in the midline in the upper neck region. Thyroid scanning along with SPECT-CT showed a photon-avid, soft tissue density lesion in the submental region. Conclusion: Ectopic thyroid in presence of multinodular goiter in native location, is a rare entity. Nevertheless, it may be included in the differential diagnosis in cases where a new swelling appears soon after surgery.

Background: Respiratory syncytial virus (RSV) is a common childhood respiratory pathogen, with many reported extrapulmonary manifestations. Neurological involvement was once believed to be temporary or reversible. Case presentation: We report a case of watershed stroke in a young child, occurring as an unexpected complication of severe RSV bronchiolitis. Unexpectedly, brain diffusion-weighted MRI proved that seizures in our patient were a consequence of more significant peripheral perfusion failure and stroke. Conclusion: It is important to distinguish the reversible effects of RSV from those alternative pathological sequelae necessitating changes in clinical management and re-prognostication

Background: Pseudolipomas are normal adipose tissues that accumulate in abnormal locations and postulate an association with trauma. Post-traumatic pseudolipomas (PTLs) are benign, soft tissue tumors that develop in various anatomic sites following acute, chronic or repetitive trauma. PTLs remain a poorly recognized and investigated clinical entity. They follow a benign course and early recognition of this clinical entity may allay anxiety in patients who suspect a more serious underlying condition or malignancy. Case presentation: We present an unusual case of a 31 year old male with a history of repetitive surfboard trauma in the past presenting with symmetric, painless soft tissue swelling of upper abdomen. Magnetic resonance imaging was consistent with Ventral PTLs. Conclusion: PTLs are a distinct clinicopathological entity but, owing to unpredictable presentations, are poorly recognized by physicians and surgeons alike. Inclusion of PTL in the differential of a lipomatous lesion can be achieved by eliciting a prior history of trauma. PTLs have not been documented to undergo malignant transformation and patient anxiety may be allayed with the diagnosis. Liposuction or surgical excision may be offered for cosmetic reasons or if symptoms arise.

Background: Prevalence of neuropathy in Diabetes in the pediatric age group is very low. Moreover, it is often a late complication of diabetes mellitus (DM) and usually related to the duration of diabetes, poor glycemic control and advanced age. We present here an interesting case of motor neuropathy as a first manifestation of Type 1 diabetes in an adolescent. Case presentation: A previously fit fourteen years old girl presented with sudden onset right foot drop. There was a history of osmotic symptoms and weight loss over the preceding last few months before presentation. Investigations revealed Type 1 diabetes mellitus. So, our patient was started on Multiple Daily Insulin Injection Regimen (MDI) as per protocol and the foot drop recovered within a period of two months. Conclusion: Mononeuropathy as a first presentation of diabetes is extremely rare. It is extremely important to assess the blood glucose in patients with peripheral neuropathy. Normalizing blood glucose levels leads to rapid neuronal recovery.

Background: Antiphospholipid syndrome is a prothrombotic state characterized by the existence of persistent antiphospholipid antibodies. The key sequence of events is focal microthrombosis and post-infarction hemorrhage in the adrenal glands. Use of anticoagulant therapy is often used as a prevention and treatment among patients. Case presentation: We describe a case of 40 year old female who visited Emergency Room with complain of severe right upper quadrant pain for two days associated with nausea and vomiting. Initial laboratory investigations of blood, liver, and renal functions were normal. CT scan of abdomen revealed diffused enlargement of the right adrenal gland and showed relatively less enhancement indicating hemorrhage at the right side which later developed bilateral during admission. A day after admission, platelet count was 60,000 accompanied with worsened abdominal pain lead to diagnosis of catastrophic Anti-phospholipid syndrome (APLS). Conclusion: APS may lead to a variety of clinical manifestations due to venous and/or arterial thrombosis, so prescribing novel anticoagulants for patients with the APS is selective, and multiple factors are needed to be considered for a successful treatment.

Background: Minor salivary gland benign tumors constitute a very small fraction of salivary gland tumors. The majority of monomorphic adenomas arise from the main salivary glands but rarely these can arise from the minor salivary glands of the buccal mucosa. Case presentation: We present 60-years old female who reported for the slow growing swelling on her right cheek for over three years. She was diagnosed of having monomorphic adenoma of the minor salivary gland after ultrasound (US), contrast enhanced computerized tomography (CECT) and magnetic resonance imaging (MRI) studies with additional confirmation by fine needle aspiration cytology (FNAC). Conclusion: Dynamic contrast MRI played a key role in assessment of the mass for its benign nature before the surgical contemplation. This was also confirmed subsequently by the histopathology examination.

Background: Right sided aortic arch is slightly rare variant of aortic arch which requires more description and elaboration for the management in clinician point view. This may remain asymptomatic or present with various vague symptomatology. It is mandatory for the clinician to be aware of the underlying anatomical details which may sometimes be responsible for the presenting complaints. Furthermore, this anomaly may also be associated with other abnormalities. Case presentation: We present 60-years old male who complained of headache and vague chest pain of two weeks duration and underwent Contrast Enhanced Computerized Tomography (CECT) chest for further evaluation. There was an incidental finding of right sided aortic arch with Aberrant Left Subclavian Artery (ALSA). This anomaly was not responsible for any of the symptoms as per the CECT findings. Conclusion: It is important to know the detailed relationship of right sided aortic arch with ALSA to the other neighboring anatomical structures. MDCT and MRI are always helpful tools to appreciate and apprise the clinician about the details of the anomaly in view of the management if required. Sometimes the symptoms may be present because of the compression by the vascular rings.