Intracoronary thrombus in a 26-year-old man

A 26-year-old smoker with no other cardiovascular risk factorpresented with acute anterior ST-segment elevation myocardialinfarction. He had smoked cannabis     

Recurrent diarrhea in a 26-year-old man

This is a case report of a 26-year-old healthy man with chronic diarrhea for 2 years. He was initially believed to have irritable bowel syndrome by his primary care physician after all stool studies yielded negative results. His symptoms persisted, which prompted a referral to a gastroenterology specialist. The patient's esophagogastroduodenoscopy revealed variable villous blunting and a paucity of CD 138 plasma cells, which helped reveal the final diagnosis. This cases illustrates a unique presentation of a common primary immunodeficiency that allergy/immunology specialists, along with primary care specialists, will likely encounter.     

S-Adenosylhomocysteine hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase deficiency disease

S-Adenosylhomocysteine (S-AdoHcy) hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase deficiency disease (ADA(–)LCL) was found to be approximately 60% of that in ADA(+)lymphoblastoid cell lines.S-AdoHcy hydrolase of ADA(–)LCL was more sensitive to inhibition by 2-deoxyadenosine as compared with that of ADA(+)LCL. The inhibitory effect of 2-deoxyadenosine was evident in cell growth and immunoglobulin production of lymphoblastoid cell lines.     

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deterioration may be rapid or may follow a slower decline with a possible stabilization of the disorder on a low-protein diet and appropriate medication. We report a 23-year-old man with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency with a very mild clinical course. He had apparently normal early development and remained relatively well until the age of 6 years, when he contracted measles. Following this illness, his motor skills and school progress deteriorated. At 15 years he had significant dysarthria, and generalized rigidity with some dystonic and unusual posturing. He was then treated with a low-protein high-carbohydrate diet with a good response in terms of balance and gait. At 18 years he was given benzhexol (Artane), increased slowly from 2mg to 6mg daily, resulting in improvement in tremor and dystonia. At 23 years he can dress himself and works in sheltered employment but remains severely dysarthric.     

Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man

Lipoprotein lipase deficiency, characterized by recurrent pancreatitis, profound hypertriglyceridemia, and delayed clearance of chylomicrons, is generally first diagnosed in childhood. Although patients with this condition have died during episodes of acute pancreatitis in the fourth and fifth decades, no patient older than 50 years has been previously reported. The de novo diagnosis of lipoprotein lipase deficiency in a 75-year-old man illustrates important points about this disease. This inborn error in metabolism may have a relatively benign clinical course resulting in normal life span, particularly if there is strict adherence to a low-fat diet and abstinence from alcohol. Moreover, measurement of lipoprotein lipase activity in persons with severe hypertriglyceridemia and recurrent abdominal pain, even in elderly patients, should lead to the correct diagnosis and treatment of this condition.     

S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Summary S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger brother has the same two mutations in the gene encoding AdoHcy hydrolase, and has been monitored since birth. We report, as well, outcomes during therapy for both patients. The information obtained suggests that the disease starts in utero and is characterized primarily by neuromuscular symptomatology (hypotonia, sluggishness, psychomotor delay, absent tendon reflexes, delayed myelination). The laboratory abnormalities are markedly increased creatine kinase and elevated aminotransferases, as well as specific amino acid aberrations that pinpoint the aetiology. The latter include, most importantly, markedly elevated plasma AdoHcy. Plasma S-adenosylmethionine (AdoMet) is also elevated, as is methionine (although the hypermethioninaemia may be absent or nonsignificant in the first weeks of life). The disease seems to be at least to some extent treatable, as shown by improved myelination and psychomotor development during dietary methionine restriction and supplementation with creatine and phosphatidylcholine.     

S-Adenosylhomocysteine hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase dificiency disease

S-Adenosylhomocysteine (S-AdoHcy) hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase deficiency disease (ADA(-)LCL) was found to be approximately 60% of that in ADA (+)lymphoblastoid cell lines. S-AdoHcy hydrolase of ADA(-)LCL was more sensitive to inhibition by 2'-deoxyadenosine as compared with that of ADA(+)LCL. The inhibitory effect of 2'-deoxyadenosine was evident in cell growth and immunoglobulin production of lymphoblastoid cell lines.     

Isolated antiplasmin deficiency presenting as a spontaneous bleeding disorder in a 63-year-old man.

Spontaneous bleeding in adults is a major problem, and in a significant number of these patients no cause is found. A 63-year-old Caucasian man presented to our hematology clinic with a large hematoma of his left thigh. Initial investigations did not show any conclusive abnormalities of primary or secondary hemostasis. Subsequent tests demonstrated a type 1 deficiency of antiplasmin. Treatment with low doses of epsilon-aminocaproic acid resulted in resolution of the hematoma and control of bleeding. We sought to determine the cause of the patient's isolated antiplasmin deficiency but no explanation was found. Three heterozygous polymorphisms were identified in his antiplasmin gene, ruling out major gene deletions. Each of these three polymorphisms has been previously reported in healthy blood donors. Finally, since response to antifibrinolytics can be dramatic, deficiencies of antiplasmin must be considered in patients presenting at any age with a spontaneous bleeding disorder.     

Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies

Ornithine transcarbamylase deficiency (OTCD) resulting from deficiency of the mitochondrial enzyme OTC shows extensive phenotypic heterogeneity influenced by allelic heterogeneity and modifying environmental influences such as protein intake. We report the fatal late-onset presentation of OTCD in a 62-year-old man with the V337L mutation, a previous presentation in his grandson and negative clinical and biochemical screening of the proband's three daughters.     

Hypothyreoidism with thyroglobulin antibodies during corticoid replacement in a 54-year-old man with isolated ACTH deficiency

Hypothyroidism with thyroglobulin antibodies during corticoid replacement in a 54-year-old man with isolated ACTH deficiency. HISTORY AND ADMISSION FINDINGS: A 54-year-old previously healthy man was admitted because of fatigue, tiredness, diarrhoea and weight loss for the last 3 years. Physical examination revealed dry but normally pigmented skin and markedly reduced Achilles reflex bilaterally. INVESTIGATIONS: Erythrocyte sedimentation rate was slightly elevated at 32 mm/h, C-reactive protein was normal. Both haemoglobin (12.4 mg/dl) and the corpuscular indices were normal, as were serum electrolytes, and sodium bicarbonate. But basal levels of thyroid stimulating hormone (TSH, 8.5 mU/ml) was markedly elevated, while free peripheral triiodothyronine (3.2pg/ml) was normal and free thyroxine (fT4) at 0.7 ng/d was slightly reduced. Thyroid ultrasound was normal. Test for antinuclear antibodies was slightly positive, but double-strand DNA was not demonstrated. Antithyroglobulin antibodies were slightly raised to 1012 IU/ml (normal <350). The basic level of ACTH was repeatedly below detection, as were plasma cortisol and cortisol excretion in 24-hour urine. Nuclear magnetic imaging was normal. Failure to stimulate corticol synthesis in the short ACTH test and by CRH indicated an isolated ACTH deficiency at the level of the anterior pituitary, while other hypophyseal functions were unaffected. TREATMENT AND COURSE: The patient"s condition rapidly improved on replacement with hydrocortisone, 30 mg/d, and thyroxine, 100 mg/d. No thyroglobulin antibodies or antinuclear antibodies were demonstrable after 6 months. Thyroxine was discontinued after 15 months. Frequent monitoring of thyroid function over the next 2 years always indicated a euthyroid state. CONCLUSION: Subnormal concentration of peripheral thyroid hormone combined with elevated TSH levels can, in the presence of hypercorticolism, be due to reversible abnormal thyroid function.