Developmental Disorders of the Lymphatics

An information blog for disorders of the lymphatics. For all articles, please click on "Archives" - Due to spammers, I will no longer allow comments, sorry.

Wednesday, March 21, 2007

Primary retroperitoneal lymphangioleiomyomatosis in a postmenopausal woman

Primary retroperitoneal lymphangioleiomyomatosis in a postmenopausal woman: a case report and review of the literature.
Int J Gynecol Cancer. 2007 Mar-Apr
Kebria M,
Black D,
Borelli C,
Modica I,
Hensley M,
Chi DS.
Gynecology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York.

Lymphangioleiomyomatosis (LAM) is a rare progressive disease of unknown etiology that typically affects women of childbearing age. It is characterized by an abnormal proliferation of smooth muscle cells causing gradual obstruction of small airways, frequently resulting in respiratory failure and death.

While LAM is predominantly a lung disorder, we report a case of retroperitoneal LAM in a patient who had no evidence of pulmonary involvement. A 59-year-old female presented with postmenopausal bleeding and no other complaints. She was found to have a low attenuation retroperitoneal mass on abdominal and pelvic computed tomography (CT) scan suspicious for lymphoma. CT-guided biopsy was nondiagnostic. Laparoscopic resection of some of the enlarged retroperitoneal lymph nodes confirmed the diagnosis of LAM. This case is an atypical presentation of LAM.

The disease typically presents in premenopausal women, with the initial site of involvement being the lungs and mediastinum. In rare cases, such as this of extrapulmonary LAM, patients typically present with a palpable abdominal mass, abdominal pain, or chylous ascites. As in our case, radiographic findings can mimic malignancies such as lymphoma. Laparoscopic lymph node biopsy is a valuable tool in these situations of diagnostic dilemma.

Blackwell Synergy

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Pulmonary lymphangioleiomyomatosis

Pulmonary lymphangioleiomyomatosis
Saudi Med J. 2007 Jan

Shawki HB,
Muhammed SM,
Reda AN,
Abdulla TS,
Ardalan DM.
Department of Medicine, Faculty of Medicine, Baghdad University, PO Box 10396, Iraq. Tel. +964 (1) 5413712. E-mail:

A 38-year-old Iraqi female, presented with one-year history of exertional dyspnea and exercise intolerance, without systemic or constitutional symptoms. Clinical examination revealed bilateral basal crackles with signs suggestive of left side pleural effusion, chest x-ray showed left sided pleural effusion, and diffuse bilateral basal pulmonary shadowing.

Her biochemical analysis, hematological tests, electrocardiogram and echocardiography were normal, aspiration of the fluid revealed a chylothorax, the radiological shadowing was proved by computed tomography scan of the chest to be diffuse cystic lesions involving mostly the lower lobes.

Open lung biopsy showed dilated lymphatic vessels with surrounding inflammatory cells and smooth muscle fibers consistently with the diagnosis of pulmonary lymphangioleiomyomatosis LAM.

PMID: 17206306 [PubMed - in process]

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Saturday, March 17, 2007

Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

Key Words: mutation analysis, Noonan syndrome, PTPN11, SHP-2

Noonan syndrome (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, skeletal anomalies, and congenital heart defects. Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33–50% of NS. This study screened for mutations in the PTPN11 gene in 34 Taiwanese patients with NS. Mutation analysis of the 15 coding exons and exon/intron boundaries was performed by polymerase chain reaction and direct sequencing of the PTPN11 gene.

We identified 10 different missense mutations in 13 (38%) patients, including a novel missense mutation (855T>G, F285L). These mutations were clustered in exon 3 (n = 6) encoding the N-SH2 domain, exon 4 (n = 2) encoding the C-SH2 domain, and in exons 8 (n = 2) and 13 (n = 3) encoding the PTP domain. In conclusion, this study provides further support that PTPN11 mutations are responsible for Noonan syndrome in Taiwanese patients.

Full text available

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Tuesday, March 06, 2007

Vincristine for the treatment of Kasabach-Merritt syndrome: recent New Zealand case experience.

Vincristine for the treatment of Kasabach-Merritt syndrome: recent New Zealand case experience.

Thomson K,
Pinnock R,
Teague L,
Johnson R,
Manikkan N,
Drake R.
Department of Radiology, Christchurch Public Hospital, Christchurch.

AIMS: To present a case series showing efficacious use of vincristine in treating Kasabach-Merritt syndrome (KMS).

METHODS: The case notes of four children treated for KMS by the authors with corticosteroids and vincristine were reviewed. Specific attention was paid to the efficacy and adverse effects of each therapeutic agent.

RESULTS: The age of presentation ranged from birth to 11 months. Initial treatment with high dose corticosteroids was uniformly ineffective, and in 2 cases, prolonged use caused significant side-effects. Subsequent or concurrent treatment with vincristine was effective and well-tolerated, with no discernable side effects. The only complications were line-related.

CONCLUSIONS: Kasabach-Merritt syndrome is rare, but it is associated with significant morbidity and mortality. No definitive treatment regime has been established, but the authors suggest that vincristine should be considered a first-line agent, and that the use of systemic corticosteroids should not be routine.

PMID: 17308555 [PubMed - indexed for MEDLINE]

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