Héctor Escobar

Nontuberculous Mycobacteria in Patients with Cystic Fibrosis

The prevalence and clinical implications of colonization with nontuberculous mycobacteria were prospectively studied in 37 patients who had cystic fibrosis. Sputum samples were cultured on Coletsos and Löwenstein-Jensen selective media after decontamination with sodium hydroxide and oxalic acid. Oxalic acid-decontaminated fractions were also cultured in selective liquid medium. Nontuberculous mycobacteria were isolated from 6 patients (16.1%). Mycobacterium chelonae and Mycobacterium avium-intracellulare complex were the most common species. Three patients with positive results of culture had at least 1 positive result by acid-fast smear. Oxalic acid decontamination and culture in liquid medium had the lowest contamination rate (6.7%). Colonization with nontuberculous mycobacteria was associated with humoral response to mycobacteria (immunoglobulin G titers against antigen A60) in patients with samples that tested positive by acid-fast smear. An improvement in pulmonary function was observed in 2 patients after they received a course of antimycobacterial therapy. Screening for nontuberculous mycobacteria in patients with cystic fibrosis will contribute to understanding the relevance of these pathogens with regard to deterioration of pulmonary function in patients with cystic fibrosis.

Ataxia with isolated vitamin E deficiency: case report and review of the literature.

The differential diagnosis of progressive ataxia in childhood includes Friedreich ataxia, ataxia telangiectasia, toxic or metabolic diseases, Refsum disease, and several neuropathies and neurologic syndromes secondary to vitamin E deficiency. Vitamin E is the term for a group of tocopherols and tocotrienols, of which -tocopherol has the highest biologic activity. First thought only to be of importance for reproduction (1), in the past decades, -tocopherol has proved to be one of the most important lipid-soluble antioxidants (2–4). It provides protective effects against free radical damage, which fosters chronic diseases, and it has been suggested that it may prevent ischemic heart disease, atherosclerosis, diabetes, cataracts, and Parkinson and Alzheimer diseases. It may also play a role in cancer, the immune system, and natriuresis. In all these cases, supplementation is thought to have beneficial effects (2–5). The neurologic complications of severe vitamin E deficiency are rare but devastating: hyporeflexia, ataxia, strabismus, muscle weakness, and visual field contrition to complete blindness, dementia, and cardiac arrhythmias. These symptoms are progressive and are easily mistaken with those of other neurologic syndromes (6– 10). Figure 1 summarizes the neurologic symptoms related to vitamin E deficiency (6). These symptoms are the consequence of a dying-back neuropathy in sensory neurons and the cerebellum resulting from the loss of the protective effect of vitamin E against several neurotoxic agents (11,12). Muscle fibers are also affected (13,14). Adequate vitamin replacement stops progression and can even ameliorate some of the symptoms, but the more advanced the deficit, the more limited the response to therapy. Vitamin E is widely available. Edible vegetable oils are the richest dietary sources. Nutritional requirements are not high, so a deficiency severe enough to produce neurologic symptoms rarely is the result of diet alone. Most cases of vitamin E deficiency are secondary to fat malabsorption. In these cases, there is also a deficit of other liposoluble vitamins and substances. Only a small number of patients have isolated low levels of vitamin E. Patients with ataxia with isolated vitamin E deficiency have normal gastrointestinal absorption of lipids but impaired ability to incorporate -tocopherol into very lowdensity lipoproteins secreted by the liver, and therefore these patients have a higher elimination rate of the vitamin. We describe the first case of progressive spinocerebellar syndrome resulting from isolated vitamin E deficiency studied in Spain. It is a representative case of the problems encountered in the diagnosis and treatment of these patients.

Management of Primary Pterygia Using Free Conjunctival and Limbal-Conjunctival Autografts Without Antimetabolites

Purpose: To report the incidence of recurrence after primary pterygium surgery using either a free conjunctival or limbal-conjunctival autograft without antimetabolites. Methods: One hundred eleven eyes of 90 patients underwent pterygium resection; a free conjunctival autograft was used in 88 surgeries and a free limbal-conjunctival autograft in 24; the latter technique was reserved for dark-skinned patients, under age 30, and with a history of recurrent pterygium in the contralateral eye. Results: Mean age was 42.5 years (range, 23-75), and 50% of the patients were male. Mean follow-up was 9 months (range, 3-12). There were 2 recurrences (1.8%), both observed in the third postoperative month. Conclusions: With a good surgical technique, the incidence of recurrence after primary pterygium surgery is very low, making the use of antimetabolites unnecessary.

Allergic bronchopulmonary aspergillosis with low serum IgE levels in a child with cystic fibrosis

A five-year-old girl was diagnosed with cystic fibrosis (CF) at age 8 months on the basis of failure to thrive, steatorrhea, and a positive sweat chloride determination of 95 mEq/L. She was seen in our outpatient clinic four times per year. During the last 4 years she remained well with mild pulmonary symptoms and no evidence of asthma. She had experienced a few episodes of infectious bronchitis without wheezing, which improved with oral antibiotic therapy. There was no history of production of brown sputum plugs, and she had never been treated with bronchodilators or oral or inhaled corticosteroids. At age 1 year, Staphylococcus aureus was cultured from her sputum. At age 2 years, Pseudomonas aeruginosa grew on her sputum culture without pulmonary involvement, and a 3-week course of intravenous antibiotic was given. Over the next three years, S. aureus, and sometimes P. aeruginosa, were cultured from her sputum. AspergiUus fumigatus (Aft only grew twice at age 2 and 3 years. Her routine chest roentgenogram showed minor changes, such as increased lung markings and mild hyperinflation, without acute changes. On routine clinical examination, clear lung fields were heard. Routine laboratory evaluation always showed a peripheral eosinophil count less than 300 cells/mm 3. Since June 1995, as part of the Allergic Bronchopulmonary Aspergillosis (ABPA) screening study, the patient was evaluated every 4 months with total serum IgE and IgE against Af (IgE-Af) by CAP ftuoroenzymeimmunoassay (Pharmacia, Uppsala, Sweden); precipitins against Af by means of the Ouchterlony technique; IgG, IgA, and IgM antibodies against Af (IgG-Af, IgA-Af, IgM-Af) assessed by ELISA; peripheral eosinophil count; and immediate skin testing with Af. In February 1996, when the patient was free of symptoms laboratory data showed a blood eosinophil count of 300 cells/ram 3, a total serum IgE of 41 kU/L (normal value <84 kU/L) and a negative IgE-Af (<0.35 kU/L). In August 1996 a left upper lobe infiltrate was seen on a routine chest roentgenogram. She had no symptoms, and clinical examination was normal. Sputum

Hemoptisis amenazante en la fibrosis quística: descripción clínica y actitud terapéutica en 36 episodios

BACKGROUND: Our goal was to evaluate the clinical characteristics and management of life-threatening hemoptysis in patients with cystic fibrosis (CF). PATIENTS AND METHOD: We included adult CF patients followed up at the Cystic Fibrosis Units of the Autonomous Community of Madrid who had life-threatening hemoptysis from June 1990 to December 1999. RESULTS: Twelve CF patients (4 females) developed 36 episodes of life-threatening hemoptysis (30 massive and 6 recurrent). Lung disease was moderate to severe. Sputum cultures revealed Pseudomonas aeruginosa in 10 patients. Thirteen episodes (36%) resolved upon antibiotic treatment and 3 (8%) after antibiotic therapy and bronchoscopy. Bronchial artery embolization (BAE) was performed in 20 of 36 events. Immediate technique success was achieved in 80% episodes (16 of 20) after one session, 85% (17/20) after two sessions, and 95% (19/20) after three sessions. No major complications associated with the procedure were seen. The overall recurrence rate per episode was 69% (24 of 35 episodes in 6 patients) with a mean time of recurrence of 13 months. There were no massive hemoptysis-associated deaths during the follow-up. CONCLUSIONS: Life-threatening hemoptysis is a frequent complication in CF patients who have moderate or severe lung disease. When conservative therapeutic measures (including antibiotics) fail to control it, BAE should be performed. When performed by expert professionals, BAE is effective and safe to immediate control of life-threatening hemoptysis in patients with CF.

Suspected sexual abuse: an unusual presentation form of congenital myotonic dystrophy.

Abstract In children, anal abnormalities due to various causes may be confused with sexual abuse. We present the case of a child in whom the suspicion of abuse due to anal dilatation led to the previously unknown diagnosis of myotonic dystrophy. Myopathic involvement of the perianal musculature is a known feature of congenital myotonic dystrophy that usually appears in late childhood or adolescence. Conclusion We stress the importance of considering an underlying myopathic condition in the differential diagnosis of anal laxity. Further studies, such as anal ultrasonography, may help when the diagnosis of abuse is not clear.