A rare case of primary ciliary dyskinesia with Kartagener抯 syndrome - A case report

Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease that includes various forms of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. Kartagener?s syndrome is a rare disorder and the prevalence is about 1 in 30,000. It is autosomal recessive ciliary disorder comprising the triad of situs inversus totalis, chronic sinusitis, and bronchiectasis. The defective movement of cilia leads to recurrent respiratory infections, and ear/ nose/ throat infections, and infertility. The diagnosis is made clinically and confirmed through electron microscopy, which reveals abnormalities of structural organization of the axoneme in cilia from respiratory epithelia and in spermatozoa. Underlying structural defects include 1) absent inner and/or outer dynein arms, 2) tubular defects, and 3) radial spoke defects. We hereby report a rare case of Kartagener?s syndrome, in an infertile male with immotile sperms. The clinician should have a high index of suspicion, so as to make an early diagnosis. An early diagnosis helps in making the options for timely treatment of infertility may be offered and unnecessary evaluation is avoided.

A rare case of Takayasu Arteritis in young woman with heart failure - A case report

Takayasu arteritis (TA) is a rare, systemic, granulomatous primary vasculitis of medium and large arteries. The name comes from Dr. Mikito Takayasu, who reported the problem in 1905 for the first time. It is also called as Pulseless Disease or Aortic Arch Syndrome and usually seen before 40 years with female and male ratio being 10:1. Takayasu arteritis is a major cause of high blood pressure levels in teenagers and young adults. Around 75 percent of the people having Takayasu get diagnosed usually at an average age of 29 years though they begin to show the symptoms at their teenage years because the early symptoms of Takayasu are nonspecific and common. Heart failure as the first presentation of the TA is rare but has been reported. Angiographic studies help in the diagnosis of Takayasu and patients usually respond to steroid therapy. We report a 16 years old female presented with history of upper limb claudication, dyspnea, orthopnea, non palpable pulse in bilateral upper limbs with non recordable BP, lower limb with high blood pressure recordings and bilateral carotid Bruit present. Imaging studies revealed circumferential wall thickening of arch of aorta, bilateral carotids, left sub clavian, left axillary. 2D echo revealed global hypokinesia with severe left ventricular dysfunction. Takayasu arteritis with heart failure diagnosis was made and administration of steroids, diuretics and ACE inhibitor improved the condition.

A rare case of intracranial dermoid cyst in a young woman � A case report

Intracranial dermoid cysts generally occurring along the midline are rare. They are benign, congenital, slow-growing cystic lesions located inside the skull. They account for<1% of all primary intracranial tumors and are more common in females in the first three decades of life. Many intracranial dermoid cysts are asymptomatic and are found by chance when brain imaging is carried out for other reasons. Clinical presentation usually relates to compression of adjacent structures or spontaneous rupture of the cyst. The signs and symptoms may range from headaches, seizures to cerebral ischemia. On CT imaging these lesions usually appear as well-defined lobulated midline masses with low attenuation and hyperintense on T1-weighted MRI imaging. We hereby report a case of an 18-year-old female presented with history of seizures involving right upper limb which spread to other limbs associated with frothing and tongue bite- 3 episodes since 2 months. She also had cleft lip. On examination CT images showed hypodense lesion in intrahemispheric region in frontal lobe and MRI image with contrast showed hyperintense T2W, hypointense T1W/FLAIR lesion. A diagnosis of an intracranial dermoid cyst in the intrahemispheric region of frontal lobe was made and the patient was advised a surgical excision of the cyst.

A rare case of migrainous left bell抯 palsy after migrainous right external ophthalmoplegia - A case report

Migraine increased the risk of Bell palsy in the total population. Among migraine patients, between ?30 and <60 years old are at an increased risk of Bell palsy. A migraine is a primary headache characterized by recurrent headache attacks triggered by various factors. As much as 10% of the global population is thought to experience migraine headaches. It was earlier considered that migraine headaches were triggered by the dilation of cerebral vessels, and the recent evidence supports that migraine attacks can also occur in the absence of vasodilation. According to the researchers, the direct neural effects from the trigeminal nerve to the facial nerve could contribute to the risk of facial palsy among patients with migraine. An alteration of the trigeminovascular function has been suggested to trigger migraines. The neurogenic inflammation of the facial nerve trunk caused by its proximity to the dilated posterior auricular/ stylomastoid/ occipital and superficial temporal arteries during a migraine attack leads to a temporary lower motor neuron type of paresis of the muscles supplied by the facial nerve. We herewith report a rare case of migrainous left Bell抯 palsy after migrainous right external ophthalmoplegia, treated with Sumatriptan.

A rare case of Syringomyelia with Arnold � Chiari Malformation Type 1 - A case report

Syringomyelia is a pathologic cystic cavity within the spinal cord containing cerebrospinal fluid (CSF). It is commonly seen as a complication of an Arnold-Chiari type 1 malformation, which is the herniation of cerebellar tonsils through foramen magnum into cervical spinal canal. Syringomyelia can also occur as complication of hemorrhage, tumor, meningitis, arachnoiditis, or trauma. Symptoms usually begin to appear in early and middle life. These symptoms usually consist of pain, dissociated sensory loss and weakness that present and progress gradually. We herewith report a rare case of syringomyelia and associated Chiari I malformation presenting with dissociated sensory impairment in neck region with headache and neck pain Treatment in these cases is surgical decompression. Recovery with significant decrease in sensory loss and relief in headache and neck pain.

Spectrum of thyroid disorders in tertiary care hospital at Patancheru, Sangareddy, Telangana, India - A clinical study

Malnutrition, particularly iodine deficiency, is one of the major contributing factors to thyroid disorders in India. Poverty in India is contributing to the increase of thyroid disorders through malnutrition, poor sanitation, and lack of access to medical facilities. Another factor is the lack of awareness about the symptoms and risk factors of thyroid disorders. Intake recommendations for iodine are provided in the Dietary Reference Intakes (DRIs) developed by the Food and Nutrition Board (FNB) at the Institute of Medicine of the National Academies. WHO recommends universal iodinization of salt. High levels of iodine intake sometimes are associated with an increased risk of hyperthyroidism, hypothyroidism, or autoimmune thyroiditis. We conducted a retrospective study at our hospital from December 2017 to January 2023. A total number of 57 cases were studied. Out of 57 patients, 46 patients presented with hypothyroidism and 11 with hyperthyroidism. Various clinical presentations, pathologies and socioeconomic problems are discussed.

A rare case of carotid stroke in young due to Takayasu Arteritis with positive anti- cardiolipin antibodies � A case report

Takayasu arteritis is a well-known yet rare form of large vessel vasculitis. Takayasu arteritis affects mainly women, and is most commonly seen in Japan, South East Asia, India, and Mexico, where it usually presents in the 2nd or 3rd decade of life. It is seen usually as pulseless disorder often with bruit at the stenosed arteries. Manifestations range from asymptomatic disease, to catastrophic strokes. Angiography remains the gold standard for diagnosis. Approximately half of those patients treated with steroids will respond, and half of the remaining patients respond to methotrexate; mycophenolatemofetil may be useful. Fertility is not adversely affected and pregnancy does not appear to exacerbate the disease, although management of hypertension is essential. We herewith report a rare case of an11 year old girl, who presented with left-sided hemiparesis, dysarthria, left UMN facial palsy, feeble pulses on right side, high Blood Pressure recordings and positive anti- cardiolipin antibodies. Imaging studies revealed Occluded right Common carotid artery, occluded right subclavian artery and stenotic right renal artery and MRI showed Acute Infarcts in Right Basal Ganglia and Right High Parietal Region, Hemorrhagic infarct in right MCA subcortical area.The diagnosis of Takayasu arteritis with recent cerebrovascular accident (left hemiparesis) with hypertension was made and the patient was started on steroids, anti-platelets, anti-hypertensives and physiotherapy.

Persistence of traumatic infantile hemiparesis in an adult - A rare case report

Hemiplegia is the physical manifestation of an injury to a specific area of the brain that controls motor function. Hemiplegia may develop suddenly, or evolve over days, weeks or months. Hemiparesis/ hemiplegia is rare in children. It causes significant mortality and morbidity. Infections are an important cause of neurological deficit, in the developing countries. Once the injury has occurred, the symptoms should not worsen. However, because of lack of mobility, other complications can occur. Complications may include muscle and joint stiffness, and shortening of limbs. The term acute infantile hemiplegia denotes certain cases of hemiplegia of sudden onset in children, of a few weeks to 6 or more years of age. The outcome may be fatal; or there may be permanent hemiplegia with mental impairment. There may be slow partial recovery; or rapid and complete recovery. We herewith present a 35 old male, who presented with seizures. 15 years ago he sustained head injury as he fell down from a tree. He was diagnosed with subdural hematoma and was evacuated through craniotomy, after which he developed residual right hemiparesis. The right hemiparesisis was still persisting as residual hemiparesis on right side with shortening of limbs. A diagnosis of Post traumatic Infantile hemiparesis on right side was made.

Clinical profile of spontaneous cerebellar hemorrhage - An original article

Spontaneous cerebellar hemorrhages are rare when compared to cerebral hemorrhages. They are characterized by occipital headache, repeated vomiting, and ataxia of gait. In mild cases there may be only gait ataxia. There may be Dizziness or vertigo, paresis of conjugate lateral gaze towards the side of the lesion, forced deviation of the eyes to the opposite side, or an ipsilateral sixth nerve palsy, blepharospasm, and skew deviation. Dysarthria and dysphagia may occur. The patient often becomes stuporous and then comatose from brainstem compression or obstructive hydrocephalus; immediate surgical evacuation before brainstem compression occurs, may be lifesaving. The introduction of computed tomography (CT) scan, had brought about a sea change in diagnosis and management. The most significant prognostic factors determining the outcome at one month were the grade of quadrigeminal cistern obliteration on the initial CT scan and the Glasgow Coma Scale on admission. The introduction of drugs like nimodepine made all the difference in the outcomes. We hereby share our experience in managing 12 cases of spontaneous cerebellar hemorrhage.

A rare case of sulcal hemorrhage after ischemic stroke � A case report

Atraumatic Non-aneurysmal sulcal subarachnoid hemorrhage is very rare. Sulcal subarachnoid hemorrhage (sSAH) is characterized by isolated bleeding in one or a few adjacent sulci. Central sulcus hemorrhage is a rare imaging finding. There are many causes for sSAH. In older patients, sSAH is due to Cerebral Amyloid Angiopathy (CAA), while in younger patients, reversible cerebral vasoconstriction syndrome (RCVS) is the most frequent etiology. Imaging studies help in the evaluation of sSAH. We report a rare case of an isolated central sulcus hemorrhage on computed tomography. sSAH usually occur on the side with acute ischemic stroke, and it is unusual for sSAH to occur on the opposite side of the infarct territory, but in our case sSAH occurred on opposite side, but after a gap of 3 years.

Coexistence of Hyperparathyroidism and Multinodular Goiter with Hashimotos Thyroiditis and Hyperthyroidism � A Rare Case Report

Thyroid disease and hyperparathyroidism (HPT) are among the most common endocrine disorders. Thyroid hormones play an important role in bone and calcium metabolism. The rate of HPT is greater in patients with thyroid disease than in the general medical population. Simultaneous occurrence of hyperthyroidism and hyperparathyroidism in the same patient is a rare combination. The clinical manifestations of hyperthyroidism may overshadow the more subtle and varied symptoms and signs of primary hyperparathyroidism. It poses difficult diagnostic and therapeutic problems. Both diseases, however, may have a profound influence on calcium metabolism. The resulting disturbances in thyrotoxicosis may simulate hyperparathyroidism. Contrariwise, the diagnosis of an associated parathyroid adenoma may be missed, or unnecessarily delayed because hypercalcemia is known to occur in hyperthyroidism. The coexistence of thyroiditis and thyroid nodules with parathyroid disorders is also known. Graves� disease (GD) and primary hyperparathyroidism (PHPT) are two common endocrine disorders. However the co- occurrence of hyperthyroidism and primary hyperparathyroidism (PHPT) is rare. However, the link between the two disorders remains unclarified. Hypercalcemia in Graves' hyperthyroidism should warrant a thorough investigation for concomitant primary hyperparathyroidism. Concomitant thyroid nodular disease and hyperparathyroidism (PHPT) disease has been also documented. PHPT is also reported in patients with thyroid malignancy. We hereby report a rare case of a patient who presented with coexistence of Hyperparathyroidism and Multinodular Goiter with Hashimotos Thyroiditis and Hyperthyroidism.

A rare case of tuberculous polyserositis � A case report

Polyserositis is defined as chronic inflammation of several serous membranes with effusions in serous cavities like Pericardial, Pleural and Peritoneal membranes, resulting in fibrous thickening of the serous membranes and sometimes constrictive pericarditis. There are various causes of polyserositis which include autoimmune diseases, neoplasia, endocrine diseases, drug � related causes and infectious diseases such as tuberculosis. Polyserositis in disseminated TB is a very rare presentation. Diagnosis is often delayed due to the non-specific presentation like polyserositis and its unusual nature. We herewith report a rare case of TB polyserositis, involving pleura, pericardium and peritoneum.

Miliary Tuberculosis with Addisons Disease - in old case of pulmonary tuberculosis, and tuberculosis of seminal vesicles - A rare case report

Addison's disease is a rare endocrinal disorder that was first described by Thomas Addison in 1855. Addison抯 disease occurs as a result of a lack of production of adrenocortical hormones, which is a rare but fatal disease if left untreated. The two most common causes of Addison's disease are autoimmune adrenalitis and tuberculosis which refer to hypoadrenalism caused by total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhoea, hypotension, and hyper pigmentation of the skin. A substantial proportion of patients presenting with extra-pulmonary tuberculosis (TB) have urogenital TB (UG-TB), which is easily under diagnosed because of non-specific symptoms, which are chronic and have cryptic protean clinical manifestations. Most of the clinician are not aware of the possibility of UG � TB. Calcification of seminal vesicle found in this case is a rare condition, which is commonly associated with diabetes, hyperparathyroidism, and genitourinary tuberculosis. We here in report a rare case of adrenal insufficiency due to miliary tuberculosis involving adrenal gland, old pulmonary tuberculosis and genitourinary tuberculosis (seminal vesicles calcification) in a 31 year old male person. He presented with multiple episodes of vomiting, and giddiness which wasalso accompanied with atypical hyperpigmentation. His symptoms resolved after starting anti tuberculous therapy.

No obvious symptoms in acute (eltroxin) thyroxine poisoning in euthyroid – A case report

Levothyroxine (T4) (Eltroxin) poisoning is a rare clinical entity which is usually asymptomatic. It can occur accidently, mostly in children, and can happen intentionally in adults with suicidal intention especially psychiatric patients. Thyrotoxicosis from an overdose of medicinal thyroid hormone is a condition that may be associated with a significant delay in onset of toxicity. However, severe symptoms such as respiratory failure, malignant hyperthermia, seizures, arrhythmia, and coma have been reported. In this case report, we present a patient who ingested high doses of levothyroxine i.e., 90 tab. of Eltroxin 100 mcg, for suicidal intension and admitted to intensive care unit. She is an euthyroid person but took these tablets, which her mother was taking Eltroxin tablets for hypothyroidism. Gastric lavage was done with activated charcoal, Inj. Hydrocortisone, Tab Propranolol and Tab Neomercazole administered. Despite ingestion of high dose of levothyroxine, thyrotoxicosis symptoms like palpitations resolved with appropriate treatment and the patient was discharged after complete recovery.

Pain abdomen and cardiac arrest as peculiar presenting symptoms in AIDP- AMSAN variety

AIDP (Acute Inflammatory Demyelinating Polyneuropathy) is a heterogenous condition encompassing several variants. It is a post infectious neurological disorder with an autoimmune pathogenesis with molecular mimicry mechanism. They present commonly with symmetrical ascending type paralysis and absent or diminished deep tendon reflexes. Cranial nerve palsies may or may not be present. The diagnosis is based on the clinical signs and symptoms, nerve conduction studies and cerebrospinal fluid analysis. We herewith report a rare case of AIDP, where the patient came walking to the emergency room with pain abdomen as the only complaint and had no neurological deficits at the time of presentation, hours later, the patient went into cardiac arrest, the cause of which was later thought to be dysautonomia and respiratory failure. The next day, patient developed motor weakness and multiple cranial nerve palsies which is an overlap of AMSAN and Acute Ophthalmoplegia. It is extremely uncommon to present with pain abdomen and cardiac arrest as presenting features in AIDP, AMSAN (Acute Motor Sensory Axonal Neuropathy) variety.

A study of clinical profile and treatment outcomes in CNS tuberculoma

Worldwide, around 10 million people fall sick every year because of Tuberculosis (TB). In India, the incidence is 2.69 million cases. Central nervous system Tuberculosis (CNS TB), which is one of the most deadly forms of tuberculosis (TB) mainly manifests as TB Meningitis followed by Tuberculoma, Tubercular abscess and other forms. CNS TB is seen in 5 to 10% of extra-pulmonary TB cases, and accounts for 1% of all TB cases and has the highest mortality. They usually present with symptoms such as headache and seizures. They may have other signs and symptoms based on the size and the location of the lesions. The advent of modern technology such as CT, MRI scans helped to diagnose early. Diagnosis is established by CT/MRI Brain, where a granulomatous lesion with/without perilesional edema is seen. MR Spectroscopy brain is indicated when the diagnosis is doubtful. Presence of lipid peak on MR Spectroscopy is diagnostic of CNS Tuberculomas. Medical management is adequate and there is no role for surgery. A course of ATT for 6 months along with corticosteroids is adequate. Addition of corticosteroids is necessary to reduce the paradoxical response; it also reduces the size of the lesion and perilesional edema. Anti epileptic drugs are not necessary. CNS Tuberculoma is curable if treated properly.

A study of clinical profile, etiology, therapeutic outcomes of patients with cerebral sinus venous thrombosis in men

Cerebral sinus venous thrombosis (CSVT) is very rare in men compared to women. There are many causes but they are very rare in men, and it is an uncommon cause of cerebral infarction. Patients usually present with Headache, Focal deficits such as Monoparesis, Hemiparesis, Paraparesis and Hemisensory disturbances, seizures, impairment of level of consciousness. Now it is recognized as a non-septic disorder with various clinical presentations with a favorable outcome, and low mortality rate below. CT scan, MRI and Magnetic Resonance Venography (MRV) are the best diagnostic methods for diagnosis and low molecular weight heparin is the first-line treatment. Results of this study, clinical profile, etiology, therapeutic outcomes of patients with cerebral sinus venous thrombosis in men are discussed.

A rare case of Kartagener’s syndrome - A case report

Kartagener?s syndrome is a rare disorder. The estimated prevalence of Kartagener?s syndrome is about 1 in 30,000. It is autosomal recessive ciliary disorder comprising the triad of situs inversus totalis, chronic sinusitis, and bronchiectasis. There is a defective movement of cilia, which leads to recurrent respiratory infections, and ear/ nose/ throat infections, and infertility. We hereby report a rare case of Kartagener?s syndrome, an infertile male with azoospermia. The clinician should have a high index of suspicion, so as to make an early diagnosis. An early diagnosis helps in such patients so that the options for timely treatment of infertility may be offered and unnecessary evaluation is avoided.

Extra hepatic portal vein obstruction due to combined protein ‘C’ and ‘S’ deficiency - A case report

Extra-hepatic portal vein obstruction (EHPVO) is an important cause of non-cirrhotic portal hypertension, in Third World countries like India. In this disorder, it results in obstruction and cavernomatous transformation of portal vein with or without the involvement of intra-hepatic portal vein, splenic vein, or superior mesenteric vein resulting in portal hypertension and esophagogastric varices. Extensive collateral circulation develops, involving paracholecystic, paracholedochal and pancreaticoduodenal veins which results in formation of ectopic varices, and portal biliopathy. Besides variceal bleeding, patients may have symptoms of portal biliopathy, hypersplenism, and growth retardation. Although the liver may appear normal, functional compromise develops in the long term. Patients with extra-hepatic portal vein obstruction are usually young and belong to India and other Asian countries. The variceal bleeding in EHPVO can be managed by endoscopic obliteration of varices, or by portosystemic shunt surgery. In this case report, we present a case of 15 year old male, with extra-hepatic portal vein obstruction due to combined deficiency of Protein C and Protein S recanalized by short-term low molecular heparin plus oral Rivaroxaban therapy

A rare case of pancytopenia due to leishmaniasis - A case report

Visceral Leishmaniasis (VL) or Kala Azar is a chronic protozoal infectious disease caused by the Leishmania donovani complex which causes a variety of hematologic manifestations. It is manifested by fever, hepatosplenomegaly, weight loss, pancytopenia and hypergammaglobinemia. In India it is mainly seen in the states of Bihar and West Bengal. Patients with VL can present to the hematologist for variety of hematological presentation even before the diagnosis of VL is made. Anemia is the most common hematological manifestation of VL. VL may also be associated with leucopenia, thrombocytopenia, pancytopenia, hemophagocytosis and disseminated intravascular coagulation. Hematological improvement is noted with the treatment for VL. Relapses are rare. In this case report, we present a rare case of leishmaniasis with pancytopenia, which is rare in Hyderabad, Telangana, India