Case Report, Minor et al.

Hemihypertrophy

Matthew Minor, M.D., and David Wang, D.O.

Department of Diagnostic Imaging, Wilford Hall Ambulatory Surgical Center, San Antonio, TX

Case Presentation A 54-year-old woman with a port wine stain since childhood presented with hypertrophy of the left lower extremity. She has been wearing compression stockings for painful swelling of the left lower extremity since childhood. In addition, she walks with a limp secondary to the left side of her pelvis "riding higher" than the right.

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Figure: Axial fat suppressed T2 (A) and T1 (B) weighted images of the lower extremities demonstrate asymmetric enlargement of the left calf with lipomatous hypertrophy and prominent vasculature compared with the right.

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Case Report, Minor et al.

Key clinical finding(s) variable and may be due to either soft-tissue Cutaneous vascular (muscular or lipomatous) or osseous overgrowth. Unilateral lower extremity hypertrophy The vast majority of cases involve the lower limbs. On MRI, soft-tissue asymmetry can be appreciated Key imaging finding(s) with bilateral imaging of the extremities. Unilateral extremity lipomatous hypertrophy and Venous anomalies have classically been imaged vascular ectasia with CT venography and more recently with MRI. Abnormalities of the venous system range from Differential diagnoses simple ectasia of the superficial and deep system, Klippel-Trénaunay Syndrome including varicosities, to persistent fetal veins and Parke-Weber Syndrome large venous malformations. The presence of a sciatic vein has been well documented as a common 5 Maffucci Syndrome finding in Klippel-Trénaunay Syndrome. Macrodystrophia lipomatosa Proteus Syndrome Parke-Weber Syndrome: In 1907, Parke-Weber described a number of cases Discussion that involved the classic findings of Klippel- Trénaunay Syndrome with one important addition - Gigantism (focal or diffuse), macromelia, 6 macrodactyly, and hemihypertrophy are all terms arteriovenous fistulas. Over the years, many referring to enlargement of all or a part of the body. authors have simply combined these two syndromes Specifically, hemihypertrophy is asymmetric into Klippel-Trénaunay-Weber Syndrome; however, enlargement or overgrowth of one side of the body the distinction between the two groups can be with hypertrophy of the muscles, blood vessels, determined through arteriography. nerves, and bones. Enlargement of one portion of the body can be seen in a number of congenital and Neurofibromatosis: developmental conditions for which clinical history Neurofibromatosis type 1 (NF1) is the most common and physical exam will aid in the differential neurocutaneous disease. Also, known as von diagnosis. Recklinghausen disease, NF1 is characterized by , café au lait spots, gliomas, and Klippel-Trénaunay Syndrome: skeletal dysplasia. Overgrowth of bone and soft First described in 1900, Klippel-Trénaunay Syndrome tissue can result in elephantoid soft tissue consists of three physical findings: cutaneous hypertrophy of a part of or a whole extremity. vascular nevus (capillary malformation), soft tissue Physical exam and clinical history are strong or bony hypertrophy of the extremity, and varicose discriminators. veins or venous malformations.1 A diagnosis of Klippel-Trénaunay requires two of the three findings. Maffucci Syndrome: This rare anomaly only occurs in 1 of 20,000 to Maffucci Syndrome is a condition within the 40,000 live births. The cause of the disease is poorly spectrum of multiple enchondromatosis understood. characterized by enchondromatosis and soft tissue Clinically, patients with Klippel-Trénaunay hemangiomas. The disease affects tubular bones, Syndrome have vascular abnormalities such as most commonly in the hands. Asymmetric nodular superficial pigmented hemangiomas (port-wine enlargement of the affected limb results in local nevus or nevus flammeus), varicose veins, gigantism. Radiographic examination will show lymphangiomas, and a deficient deep venous pathognomonic phleboliths from the vascular lesions system. Limb deformity is usually monomelic with and multiple bony lytic lesions with a chondroid local gigantism developing early in childhood and matrix, typical of enchondromas. The presence of involving all or a portion of a limb. Asymmetry is enchondromas is a discerning feature.

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Case Report, Minor et al.

Beckwith Weidemann Syndrome: Summary Beckwith Wiedemann Syndrome is an autosomal Hemihypertrophy or unilateral asymmetric gigantism dominant disorder characterized by local gigantism, is a rare condition, which may arise from a variety of macrosomia, and hemihypertrophy. Associated congenital and developmental conditions. Aside anomalies include macroglossia, otic dysplasia, from known syndromes, the initial presenting omphalocele, cardiac anomalies, and organomegaly symptom is often a limb length discrepancy. Clinical (kidney, liver, and spleen). There is a high risk for assessment, associated anomalies, and imaging the development of neoplasia, including Wilms findings help differentiate these rare conditions from tumor, adrenocortical carcinoma, neuroblastoma, one another. As seen with this case, MRI findings of and hepatoblastoma, among others. venous abnormalities and limb hypertrophy are characteristic and readily evident in the setting of Macrodystrophia Lipomatosa: Klippel-Trénaunay Syndrome. Macrodystrophia lipomatosa is a developmental anomaly predominantly affecting fingers and toes The views expressed in this material are those of the characterized by overgrowth of all the tissues of author, and do not reflect the official policy or mesenchymal origin, predominantly involving position of the U.S. Government, the Department of fibroadipose tissue. Its cause is unknown. Unilateral Defense, or the Department of the Air Force. involvement is typical with overgrowth more pronounced distally. There is no gender predilection References and the deformity can be seen at birth or early 1. Klippel M, Trenaunay P. Du naevus variquex infancy, progressing until puberty. Other osteo-hypertrophque. Arch Gen Med (Paris) deformities such as syndactyly, clinodactyly and 1900; 185: 641-72. polydactyly can be associated with macrodystrophia 2. Bliznak J, Staple TW. Radiology of angiodysplasias of the lipomatosa. limb. Radiology 1974; 110: 35-44. 3. Servelle M. Klippel-Trénaunay syndrome; 768 operated Proteus Syndrome: cases. Ann Surg 1985; 201: 365-373. 4. Baskerville PA, Ackroyd JS, Lea Thomas M, Browse NL. In 1960, Proteus syndrome was described, consisting The Klippel-Trénaunay syndrome: clinical, radiological, of partial gigantism of the hands and/or feet, and haemodynamic features and management. Br J Surg hemihypertrophy, pigmented nevi, subcutaneous 1985; 72: 232-236. ‘tumors,’ skull anomalies, accelerated growth, and 5. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stans AW, Clay visceral abnormalities. A hallmark of this syndrome RP, Gloviczski P. Klippel Trénaunay syndrome: spectrum is its pattern of involvement.7 Diagnostic and management. Mayo Clin criteria and guidelines include skeletal surveys; MRI Proc. 1998; 73: 28–36. evalutaion of the abdomen, pelvis, and central 6. Parkes-Weber, F. Angioma Formation in Connection nervous system; and CT evaluation of the chest. with Hypertrophy of Limbs and Recently, researchers determined that a variant of Hemi-Hypertrophy. Brit. J. Derm 1907;19: 231. 7. Wiedemann HR, Burgio GR, Kunze J, Kaufmann HJ, the AKT1 (protein encoding gene) is the cause of the 8 Schirg E. The Proteus Syndrome. Eur J Pediatr 1983; 140: Proteus syndrome. 5-12. 8. Lindhurst MJ, et al. A Mosaic Activating Mutation in Diagnosis AKT1 Associated with the Proteus Syndrome. N Engl J Med Klippel-Trénaunay Syndrome 2011; 365: 611-9.

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