Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
Project description:Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.
Project description:Bobble - head syndrome (BHDS) is a complex and rare syndrome with repetitive anteroposterior head movements. It is usually associated with expansile lesions in the third ventricular region. We present a 9 year old child with a giant suprasellar arachnoid cyst causing involuntary head movements.
Project description:Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity.
Project description:Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia. Abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, CT scan abdomen and brain, biochemical profiles, as well as neurologic and ophthalmic evaluations were consistent with Allgrove's syndrome. Management consisted of pneumatic balloon dilatation for achalasia and initiation of cortisone therapy with successful resolution of dysphagia and other symptoms.
Project description:IntroductionSjögren's syndrome is an autoimmune disease affecting exocrine glands and other organs. At the onset of the disease and during its course, it most commonly manifests as neuropsychiatric symptoms, most frequently, depression and anxiety. However, the association with bipolar disorder seems rare and not frequently documented.Case reportOur case report presents a 43-year-old male complaining from neuropsychiatric symptoms including but not limited to periods of elevated mood, increased energy, headaches. Examination revealed xerophthalmia and xerostomia, thus Sjogren's Syndrome was diagnosed. A psychiatric consultation further diagnosed the patient with Bipolar Disorder. Successful treatment consisted of Carbamazepine and Azathioprine.DiscussionPeople with immunological diseases like Sjogren's Syndrome have a higher chance of developing Bipolar Disorder with an unclear etiology. Clinical symptoms, MRI findings, and cerebral fluid analysis can lead to a proper diagnosis. Treatments include usual treatment for Sjogren's such as corticosteroids and immunosuppressants, in the addition of mood stabilizers for Bipolar.ConclusionPsychiatry assessments should be done systematically in patients with autoimmune diseases to avoid delays in diagnosis and to make better treatment decisions.
Project description:BACKGROUND:Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. CASE PRESENTATION:We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. CONCLUSIONS:The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.
Project description:Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.
Project description:Takayasu arteritis (TA) is a rare disorder and it is a devastating condition of aorta. The presently available treatments for the condition in the modern medicine have limited benefits. This is case of TA which was better managed with Ayurvedic intervention. An Ayurvedic diagnosis for this case was Siragata Vata (vitiated Vata Dosha affecting the blood vessels). A 42-year-old woman was diagnosed with TA and treated on the line of management of Siragata Vata with Shastikashali Pinda Swedana (sudation with bolus of medicated cooked rice) for 16 days, Erandamuladi Niruha Basti (enema mainly with decoction) along with Ashwagandha Taila Anuvasana (enema with medicated oil) for 16 days in Kala Basti Krama (16 days in alternate order of decoction and oleation enema) followed by one day gap and then 7 days of Nasya Karma (nasal therapy) with Triphaladi Taila (oil) on alternate days along with a combination of Ayurvedic oral drugs [Brihadvatachintamani Rasa-125 mg, Dashamula Kwatha-40 ml, Narsinha Churna (powder)-3 g, Yogaraja Guggulu-1g (500mgx2tab) and Shiva Gutika-500 mg, twice a day for 1 month. Same Panchakarma procedures were repeated after 6 months. A similar combination of oral medications were continued in between and during this period. Chyavanaprasha Aveleha in the dose of 10g twice a day with milk were also added after completion of this treatment regime. Patient condition was assessed on Indian Takayasu Clinical Activity Score (ITAS-2010) for disease activity of TA. Satisfactory results were observed in the patient with improvement in ITAS-2010 scoring. TA may be managed with Ayurvedic drugs and Panchakarma procedures.
Project description:Pycnodysostosis is a rare autosomal recessive condition caused by the mutation of CTSK gene. CTSK regulates the activity of Cathepsin K which is responsible for osteoclast-mediated bone resorption. This mutation causes the bones to become dense, sclerotic, brittle, and thus, prone to fracture. Affected individuals have normal cognitive development and life expectancy, however, the quality of life depends on the early diagnosis of the condition. The patient presents with striking clinical (short stature, brachydactyly) and radiological (frontal and parieto-occipital bossing, open sutures, and fontanelles, acro-osteolysis of terminal phalanges) features making the diagnosis clinico-radiographic. In atypical or mild cases with overlapping features, gene mapping is advocated. A plethora of dental anomalies and characteristic craniofacial dysmorphia puts the dentist in a position to diagnose such a case.