Klippel–Trenaunay syndrome in combination with congenital dislocation of the hip

Hu, Peng; Zhang, Guo You; Wang, Yang; Cheng, Yan; Wang, Li Li

doi:10.1016/j.jcma.2012.12.004

Cited by 5 publications

(5 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Deep vein abnormalities increase deep vein thrombosis risk, possibly leading to a pulmonary embolism [4,19,21]. Ancillary symptoms include cataracts, glaucoma, hip dislocation, blood clotting, cellulitis, lymphedema, internal bleeding, acrodactyly, syndactyly, polydactyly, congenital hip dislocation, peripheral neuropathy, metatarsal, and phalangeal agenesis to osteolysis, as well as larger cardiovascular, gastrointestinal, liver, spleen, and genitourinary tract problems [4,5,19,[22][23][24][25]. Additionally, the moderate psychomotor delay has been described in KTS and may be related to 2q27.3 microdeletion [26].…”

Section: Discussionmentioning

confidence: 99%

Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature

Snee

Mazzola²,

Sikorskyj³

2021

Childs Nerv Syst

View full text Add to dashboard Cite

We present a rare case of an 8-year-old male with Klippel-Trenaunay syndrome (KTS) and a Chiari I malformation (CIM). Magnetic resonance imaging (MRI) to investigate facial asymmetry and speech delay at age two revealed CIM with cerebellar tonsils 1.3 cm below the foramen magnum without syringomyelia. The patient underwent a craniectomy and posterior fossa decompression with C1 laminectomy. While gene sequencing determined the patient was negative for the PIK3CA gene mutation, the patient’s clinical history strongly suggests KTS. He has hemihypertrophy, leg length discrepancy, hemangiomas and pigmentary mosaicism along the upper and lower extremities, heart murmur, chronic low heart rate, recurrent hip pain, and mild scoliosis. Neurodevelopmental concerns include difficulty reading, attention deficit hyperactivity disorder (ADHD), anxiety, and difficulty running and going downstairs. His most recent MRI shows good decompression at the cervicomedullary junction, global cerebrospinal fluid (CSF) flow, and less peg-like cerebellar tonsils. Also noted were two intravertebral hemangiomas at T5 and T6. While the patient’s speech has improved, there is still difficulty with the expressive language. He still has mild delays, runs slowly, and does not alternate feet when climbing stairs. The patient is being followed by multiple specialists including neurology, hematology-oncology, genetics, orthopedic surgery, and developmental pediatrics.

show abstract

Section: Discussionmentioning

confidence: 99%

Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature

Snee

Mazzola²,

Sikorskyj³

2021

Childs Nerv Syst

View full text Add to dashboard Cite

show abstract

“…Although any part of the body can be involved, the most commonly affected sites are the lower extremities [7]. Limb findings varied from finger and toe deformities such as acrodactyly, polydactyly, syndactyly, metatarsal and phalangeal agenesis to osteolysis, congenital dislocation of the hip and peripheral neuropathy [2, 8]. As for vascular malformations, almost all organs of the body can be affected, including cardiovascular system, gastrointestinal tract, liver, spleen, and genitourinary tract.…”

Section: Discussionmentioning

confidence: 99%

“…KTS was reported to associate with other congenital malformations, such as congenital dislocation of the hip (CDH) [8] and spinal arteriovenous malformation [11]. However, KTS may rarely occur in combination with kyphoscoliosis.…”

Section: Discussionmentioning

confidence: 99%

Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review

Zhai

Zhong

Shen

et al. 2019

BMC Musculoskelet Disord

View full text Add to dashboard Cite

BackgroundKlippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of venous varicosities, capillary malformations and limb hypertrophy. However, KTS may rarely occur in combination with kyphoscoliosis.Case presentationWe presented an 18-year-old female with KTS and kyphoscoliosis. Hypertrophy of bone and soft tissue affected her left face, trunk and lower limb. Moreover, the patient is associated with subacute thyroiditis, vitamin D deficiency and iron deficiency anemia, high level of D-dimer, swollen tonsil, kyphoscoliosis and Chiari-I-malformation without syringomyelia. A posterior correction and spinal fusion from T10 to L5 levels were performed for this patient. The lumbar curve was corrected from 105° to 60° and the kyphosis improved from 58° to 26°. The distance of trunk shift decreased from 10 cm to 1.4 cm. There were no thrombotic events occurred. At the 8th month follow-up, there was no significantly change of the curve in the coronal and sagittal radiographs. During the 31-month follow-up, the patient did not experience any discomfort. And her general appearance did not have any change until the last follow-up. However, she refused to take radiograph for worrying about radiation.ConclusionsKTS is a rare disease with classic clinical triad. However, it can also have other different features, including kyphoscoliosis, elevated D-Dimer, vitamin D deficiency and iron-deficiency anemia. These issues should be taken into consideration when planning treatment for kyphoscoliosis in KTS patients.

show abstract

“…Currently, the exact inheritance of KTWS is unknown. It has been suggested that the disease is sporadic [209][210][211], but familial cases and a putative autosomal dominant model of inheritance were also considered [212][213][214]. The researchers have proposed AGGF1, a gene encoding a potent angiogenic factor, as a candidate gene for KTWS [215].…”

Section: Klippel-trénaunay-weber Syndromementioning

confidence: 99%

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

et al. 2021

View full text Add to dashboard Cite

Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose a major challenge to the clinician: due to significant phenotype overlap, a precise diagnosis is often difficult to obtain, some of the malformations carry a risk of life threatening complications and, for many entities, treatment is not well established. To facilitate their recognition and aid in differentiation, we present a selection of notable congenital disorders of vascular system development, distinguishing between the heritable germinal and sporadic somatic mutations as their causes. Clinical features, genetic background and comprehensible description of molecular mechanisms is provided for each entity.

show abstract

Klippel–Trenaunay syndrome in combination with congenital dislocation of the hip

Cited by 5 publications

References 14 publications

Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature

Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature

Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

Contact Info

Product

Resources

About