Cowden syndrome with Lhermitte–Duclos disease presenting as ataxia.

Cowden syndrome or multiple hamartoma syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origin. A 45-year-old man presented to us with a history of dural arteriovenous fistula and intracerebral bleed in the past with gradually progressive difficulty in walking. Magnetic resonance imaging (MRI) of the brain showed a heterogeneous lesion in the cerebellum which was diagnosed as adult Lhermitte–Duclos disease which is considered a component of Cowden syndrome. On examination we found florid skin and mucosal manifestations of Cowden syndrome. A family history of thyroid malignancy was also present. Using the Cleveland Clinic web calculator, the patient had an 82% chance of having a phosphatase and tensin homologue (PTEN) mutation.

Primary haemophagocytic syndrome in a young girl.

Haemophagocytic syndrome is a life-threatening systemic illness characterized by an uncontrolled inflammatory response. Patients present with fever, hepatosplenomegaly, jaundice and liver dysfunction, neurological manifestations and often pancytopenia. Bone marrow, lymph node, hepatic or splenic biopsy shows macrophages with ingested blood cells or their precursors. Laboratory markers include elevated triglycerides and ferritin, low fibrinogen with normal or low erythrocyte sedimentation rate (ESR). Familial haemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder. Secondary haemophagocytic syndrome results from infections, malignancy and collagen vascular disorders. We describe a young girl with primary haemophagocytic syndrome.

Cortical venous thrombosis due to acquired hyperhomocysteinaemia.

A 20-year-old student presented with generalized tonic– clonic seizures and was diagnosed to have cortical venous thrombosis. Her dietary history and the clinical signs of vitamin deficiency prompted further investigations, which detected hyperhomocysteinaemia secondary to vitamin B12 deficiency as a factor contributing to the hypercoagulable state. This case highlights the importance of a balanced diet, as well as the necessity for primordial prevention.

Congenital immunodeficiency disorder.

A 17 year old girl, a 9th standard student with history of recurrent pneumonia and soft tissue "cold abscesses" since neonatal period, presented with fever and cough with yellowish expectoration of 2 months duration. Her clinical and radiological finding along with elevated serum IgE level were consistent with the diagnosis of hyper immunoglobulin E syndrome or Job's syndrome.

Idiopathic hypoparathyroidism presenting as secondary myelofibrosis.

Myelofibrosis occurring both in childhood and adulthood is most commonly idiopathic, followed by neoplastic infiltration of the bone marrow. We are reporting an extremely rare association of idiopathic hypoparathyroidism associated with stable secondary myelofibrosis.

PUO due to Langerhans Cell Histiocytosis.

Langerhan Cell Histiocytosis (LCH) is a disorder in which cells with a phenotype similar to that of epidermal langerhans cells cause tissue damage possibly through excessive cytokine production. The clinical spectrum of the disease is wide. We are reporting a case of LCH who presented with prolonged pyrexia and a clinically benign bony swelling of mandible of long duration, which was otherwise ignored as being unrelated. The biopsy from the swelling confirmed the diagnosis of LCH. Another biopsy from lower end of tibia where he had pain also demonstrated typical findings. There was no evidence of other system involvement. There was good remission of the swellings and the symptoms with steroid alone initially but later relapsed and is now on treatment as per LCH III protocol. The case is being reported for its rarity and for the unusual presentation as PUO.

Restrictive cardiomyopathy due to primary plasma cell leukemia.

The causes of restrictive cardiomyopathy are numerous, of which neoplastic infiltration is also known. Plasma cell leukemia is considered as the, most severe form of multiple myeloma, is an extremely rare condition. Among them, primary plasma cell leukemia has got an incidence of one in one million only. We report a case summary of a patient who was admitted with clinical features suggestive of restrictive cardiomyopathy, the underlying disorder was primary plasma cell leukemia. With chemotherapy the restrictive physiology was relieved supporting the diagnosis of plasma cell infiltration in the myocardium. We report this case due to rarity of the disease itself and its rare presentation.

Tuberculosis and vitamin D deficiency.

OBJECTIVES: a) To find out the normal level of 25 hydroxy vitamin D in healthy individuals b) To look for evidence of vitamin D deficiency in patients with active tuberculosis. METHODS: There were 35 cases of pulmonary and extra-pulmonary tuberculosis and 16 controls, whose clinical characteristics, dietary intake of vitamin D and biochemical characteristics including serum vitamin D levels were compared. Exclusion criteria: malabsorption, liver or renal disorders, intake of drugs, which can reduce vitamin D levels, HIV infection, diabetes, immunosuppressive treatment, and severe protein energy malnutrition. RESULTS: There was a statistically significant difference (p < 0.005) in mean vitamin D levels between controls (19.5 ng/ml) and study subjects (10.7 ng/ml). Sixteen patients out of 35 had values well below the lower limit of normal (9 ng/ml). No one in the control group had vitamin D level less than 9 ng/ml. However the mean vitamin D level in the control group was less than the mean value quoted in the literature from the West. Sunlight exposure was adequate in those with deficiency but there was reduced dietary intake of vitamin D. CONCLUSIONS: Serum 25 hydroxy vitamin D levels less than 9 ng/ml indicates deficiency. Vitamin D deficiency exists in patients with tuberculosis and it is possibly a cause rather than effect of the disease; deficiency is due to decreased dietary intake. Vitamin D deficiency can occur without any symptoms. If symptoms are present, it indicates severe deficiency. Serum calcium and phosphorus values do not often predict the existence of deficiency.

Nail-patella syndrome with some unusual features.

Nail-patella syndrome is a rare hereditary disease. We report a patient who was the lone member affected in the family. The patient additionally had a bony defect of the skull which has not been reported so far in the literature.

Hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (Osler-Rendu-Weber syndrome) is an autosomal dominant vascular disorder, manifesting with telangiectases and bleeding in different parts of the body. We report a patient who presented with bleeding from various sites.