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Batten disease

Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling.Other symptoms or signs include slowing head growth in the infantile form, poor circulation in lower extremities with legs and feet, decreased body fat and muscle mass, curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding, and constipation. more...

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Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.

Batten disease is named after the British pediatrician F. E. Batten who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL, some physicians use the term Batten disease to describe all forms of NCL.

The disease is inherited in an autosomal recessive manner. The mutation causes the buildup of lipofuscins in the body's tissues. These substances consist of fats and proteins and form certain distinctive deposits that cause the symptoms and can be seen under an electron microscope. The diagnosis of Batten disease is based on the presence of these deposits in skin samples as well as other criteria. Six genes have now been identified that cause differenty types of Batten disease in children or adults. There are more that have yet to be identified. Two of these genes encode enzymes. The function of most of these geens is still unknown. The identification of these genes opens up the possibility of gene replacement therapy or other gene-related treatments.

In October 2005, the FDA approved the transplantation of fetal neuronal cells into the brains of children suffering from Infantile and Late Infantile versions of Batten disease. The cells, which are immature and in an early stage of development, are derived from aborted and miscarried fetuses and will be injected into the patient's brains. To avoid rejection of these foreign cells, the immune system of the patients has to be suppressed.


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Pulmonary capillary hemangiomatosis: a consideration in unexplained pulmonary hypertension
From CHEST, 10/1/05 by D.L. Bedsole

INTRODUCTION: Pulmonary capillary hemangiomatosis (PCH) is a rare condition which causes severe pulmonary hypertensive disease. There are overlapping features with other conditions,particularly pulmonary veno-occlusive disease (PVOD), adding to the difficulty with early suspicion and diagnosis of this disorder. Our case illustrates the value of including PCH in the differential diagnosis of unexplained pulmonary hypertension.

CASE PRESENTATION: KB is a 35 year old man referred to UAB for lung transplant evaluation. 18 months prior to referral this previously healthy man was admitted to a local hospital with acute dyspnea. Chest radiograph revealed a diffuse, bilateral reticulonodular pattern. Supplemental oxygen, antibiotics, and nebulizer therapy were begun. With only minimal improvement, evaluation continued including a 2-D echocardiogram revealing pulmonary artery systolic pressures above 90 mm Hg. Open lung biopsy demonstrated "microemboli consistent with veno-occlusive disease." After learning this information, KB recalled that his father and two maternal aunts had pulmonary hypertension. A thorough search for a source of emboli was unsuccessful. KB was treated with warfarin, inhaled beta-agonists, inhaled steroids, and epoprostenol therapy prior to referral. After transfer and lung transplant procedure, surgical pathology reported impressive capillary proliferation in the pulmonary interstitium of the ex-plant. The proliferation impinged on small airways and blood vessels, consistent with the diagnosis of PCH.

DISCUSSIONS: PCH involves capillary proliferation within: 1) alveolar septa, 2) bronchial and venous walls, 3) pleura, and sometimes 4) regional lymph nodes [1]. Both clinical presentation and histologic features have similarities with PVOD. Patients usually present with progressive dyspnea, often with pleuritic chest pain and hemoptysis. Chest radiographs usually show a diffuse, bilateral, reticulonodular interstitial pattern. Examination of vasculature often reveals enlarged pulmonary arteries on chest radiograph. Histologically, PCH manifests as capillary proliferation in the areas noted above. There are many similar histologic features between PCH and PVOD, with two distinct difference being capillary growth into the bronchial and venous walls (occurring in PCH but not PVOD) and occlusion of the pulmonary vein lumen occurring more often in PVOD. Although potential therapies include medications such as doxycycline [2] mid interferon alpha-2a [3] which disrupt capillary growth, only bilateral lung transplant currently offers potential long-term survival. Prostacyclin therapy is considered contra-indicated secondary to a reported risk of pulmonary edema [4]. Interestingly, a hereditary form of PCH has been reported [5].

CONCLUSION: PCH is a rare disorder causing significant pulmonary hypertension. It both clinically and histologically resembles PVOD and clinical suspicion 'along with close histologic examination is required for differentiation. Consideration of this diagnosis is vital when evaluating a patient with pulmonary hypertension, particularly when investigation of another etiology such as PVOD yields conflicting findings as it did with KB. Diagnosing PCH allows for early evaluation for bilateral lung transplantation, avoidance of prostacyclin therapy, and potential family genetic counseling.



[1] Yi ES: Tumors of the pulmonary vasculature. Cardiol Clin 22 (2004) 431-440.

[2] Ginns LC, Roberts DH, Mark EJ, et al: Pulmonary capillary hemangiomatosis with atypical endotheliomatosis. Successful anti-angiogenic therapy with Doxycycline. Chest 124(5): 2017-22, 2003.

[3] White CW, Sondheimer HM, Crouch EC, et al: Treatment of pulmonary hemangiomatosis with recombinant interferon Alpha-2a. N Engl J Med 320: 1197-1200, 1989.

[4] Humbert M, Maitre S, Capron F, et al: Pulmonary edema complicating continuous intravenous prostacyclin in pulmonary capillary hemangiomatosis. Am J Respir Crit Care Med 1998; 157:1681-5.

[5] Langleben D, Heneghan JM, Batten AP, et al: Familial capillary hemangiomatosis resulting in primary pulmonary hypertension. Ann Inter Med 1988; 109:106-9.

DISCLOSURE: D. Bedsole, None.

D. L. Bedsole MD * Katrin Klemm MD George L. Zorn MD Keith M. Wille MD University of Alabama at Birmingham, Birmingham, AL

COPYRIGHT 2005 American College of Chest Physicians
COPYRIGHT 2005 Gale Group

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