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Niemann-Pick Disease

Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. more...

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Niemann-Pick Disease

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There are four variants of Nieman-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in a autosomal recessive pattern.

Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Niemann-Pick.

Types

Types A and B

Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to thrive, and progressive deterioration of the nervous system. Children affected by this condition generally do not survive past early childhood. Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.

Type B disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of blood cells involved in clotting (platelets). People affected by this type of Niemann-Pick disease usually survive into adulthood. Niemann-Pick disease, type B occurs in all populations.

Mutations in the SMPD1 gene cause Niemann-Pick disease, types A and B. This gene carries instructions for cells to produce an enzyme called acid sphingomyelinase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as sphingomyelin. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals.

Types C1 and C2

Niemann-Pick disease, type C is further subdivided into types C1 and C2, each caused by a different gene mutation. Both types C1 and C2 Niemann-Pick disease are most commonly characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.

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Juvenile xanthogranuloma: a rare cause of subglottic cyst and stenosis - Original Article
From Ear, Nose & Throat Journal, 9/1/03 by Hanna S. Sahhar

Abstract

Only two cases of juvenile xanthogranuloma of the larynx have been previously reported in the literature. We report a new case, which occurred in an 18-month-old girl. The patient was brought to us for treatment of stridor and respiratory distress. During examination, she was found to have a subglottic mass. The lesion was treated with laser microlaryngoscopy, which relieved the patient's respiratory distress and obviated the need for tracheotomy. Pathologic examination of the mass revealed that it was consistent with a juvenile xanthogranuloma. Juvenile xanthogranuloma is generally a benign and self-limiting disease, but complications can occur when the space that the tumor occupies causes functional impairment.

Introduction

Stridor in infants and young children is a common symptom that can have numerous causes. In the absence of signs of infection, the physician should consider the possibility of a structural abnormality. Such an abnormality can include congenital subglottic stenosis or hemangioma.

In this article, we report a case of stridor that was caused by juvenile xanthogranuloma in the subglottic area. No associated cutaneous lesions were present. Laser excision of the lesion led to a prompt relief of the respiratory distress. To our knowledge, this is only the third reported case of juvenile xanthogranuloma of the larynx.

Case report

An 18-month-old girl was hospitalized with a 2-week history of noisy breathing and respiratory difficulty that had not responded to outpatient treatment. She was initially brought to a pediatrician for evaluation of a whistling sound while breathing; she did not exhibit any respiratory distress at that time. Her initial outpatient care was supportive, but she eventually developed respiratory distress.

In the hospital, the patient was treated with alternating albuterol and racemic epinephrine aerosols in addition to a systemic steroid, but relief was minimal. Evaluation of the subglottic area by fiberoptic bronchoscopy identified a 60% stenosis. Helical computed tomography of the neck with contrast infusion detected a possible vascular hemangioma in the right posterior lateral wall of the subglottic region. The patient was taken to the operating room for rigid bronchoscopy and possible ablation of the lesion. On examination of the subglottic area, a subglottic cyst was seen in the immediate posterior subglottis (figure 1). The cyst was incised by a neodymium:yttrium-aluminum-garnet (Nd:YAG) laser. The surface capsule was removed and sent for cytopathology. Analysis revealed that the lesion was a juvenile xanthogranuloma (figure 2).

[FIGURE 1-2 OMITTED]

Discussion

Juvenile xanthogranuloma is the most common form of non-Langerhans' cell histiocytosis. It is a benign, self-limiting disorder that usually appears as a localized cutaneous lesion, although it can affect other organs. The cutaneous lesions can be either solitary or multiple. They are generally yellowish-red, rubbery papulonodules, and they primarily involve the head, neck, and trunk. The most common extracutaneous site is the eye, followed by the lung and the liver. Rarely affected sites are the pericardium, myocardium, spleen, retroperitoneum, kidney, central nervous system, gonads, bones, and the larynx. (1, 2) These lesions are asymptomatic except when their location causes a functional impairment.

Cutaneous juvenile xanthogranuloma usually follows a benign course and does not require treatment. Systemic involvement is seen in 5 to 10% of these patients. (3) Because systemic juvenile xanthogranuloma can occur without cutaneous manifestations, the presence or absence of skin lesions does not appear to predict the presence of a systemic lesion. However, when skin lesions are present, they usually precede the development of other organ complications. (3)

Unlike other xanthomatous disorders, juvenile xanthogranuloma is not associated with metabolic abnormalities such as hyperlipidemia and diabetes insipidus. Some authors have reported an association of juvenile xanthogranuloma with cafe-au-lait spots and a family history of neurofibromatosis type 1 or type 2. (4, 5) A well-documented association has been found between juvenile xanthogranuloma and childhood leukemia, most often juvenile chronic myelogenous leukemia. (5) Other coexisting conditions that have been reported in single cases of patients with juvenile xanthogranuloma include insulindependent diabetes mellitus, urticaria pigmentosa, Niemann-Pick disease, cytomegalovirus infection, and ingestion of oral contraceptives.

Histopathologically, juvenile xanthogranuloma is characterized by sheets of unencapsulated, dense, and well-demarcated histiocytes. The cellular infiltrate also includes various proportions of giant cells, Touton cells, lymphocytes, eosinophils, and neutrophils. The morphology of the infiltrate varies with the clinical evolution of the lesion. (6)

Unless their location interferes with vital functions, systemic lesions do not require treatment. When treatment is necessary, radiotherapy, high-dose corticosteroids, and cyclosporine have been occasionally administered. However, response to these treatments is difficult to assess because of the possibility of spontaneous involution.

Our approach to the management of the subglottic stenosis in our patient was to proceed with conservative excision of the cyst in order to restore the patency of the airway. We thus avoided the need for tracheotomy, which was used by Benjamin et al (1) and Thevasagayam et al (2) in the other two reported cases of juvenile xanthogranuloma of the larynx.

References

(1.) Benjamin B, Motbey J, Ivers C. Kan A. Benign juvenile xanthogranuloma of the larynx. Int J Pediatr Otorhinolaryngol 1995;32:77-81.

(2.) Thevasagayam MS. Ghosh S, O'Neill D, et al. Isolated juvenile xanthogranuloma of the subglottis: Case report. Head Neck 2001 ;23:426-9.

(3.) Freyer DR, Kennedy R, Bostrom BC, et al. Juvenile xanthogranuloma: Forms of systemic disease and their clinical implications. J. Pediatr 1996;129:227-37.

(4.) Thami GP, Kaur S, Kanwar AJ. Association of juvenile xanthogranuloma with cafe-au-lait macules. Int J Dermatol 2001; 40:283-5.

(5.) Gutmann DH, Gurney JG, Shannon KM. Juvenile xanthogranuloma, neurofibromatosis 1, and juvenile chronic myeloid leukemia. Arch Dermatol 1996; 132:1390-1.

(6.) Hernandez-Martin A, Baselga E, Drolet BA, Esterly NB. Juvenile xanthogranuloma. J Am Acad Dermatol 1997:36(Pt 1):355-67; quiz 368-9.

From the Department of Pediatrics, Advocate Hope Children's Hospital, Oak Lawn, Ill.

Reprint requests: Silvio Marra, MD, 16001 S. 108th Ave., Orland Park, IL 60467. Phone: (708) 460-0007; fax: (708) 460-0005; e-mail: silviomarra@juno.com

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