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Journal of Pediatric Surgery (2011) 46, E35–E37

Novel findings in the Marden-Walker syndromeTom Theys a,⁎, Christel Van Geet b, Mehrnaz Didgar a

aDepartment of Neurosurgery, University Hospitals Leuven, Herestraat 49, 3000 Leuven, BelgiumbDepartment of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium

Received 23 November 2010; revised 25 December 2010; accepted 5 January 2011

0d

Key words:Marden-Walkersyndrome;

Blood coagulationdisorders;

Hematoma;Dandy-Walker syndrome

Abstract Reports about the Marden-Walker syndrome mainly consist of sporadic cases. We describe a14-year-old girl with the Marden-Walker syndrome who presented with a huge scalp hematoma. Thecase and the corresponding images demonstrate an association with a defective hemostasis, skinhyperlaxity, and impaired wound healing.© 2011 Elsevier Inc. All rights reserved.

In 1966, Marden and Walker [1] described a generalizedconnective tissue syndrome associated with blepharophimo-sis, micrognathia, a fixed facial expression, kyphoscoliosis,joint contractures, pectus deformity, and arachnodactyly.

An association of this syndrome with the Dandy-Walker complex has also been reported [2,3]. Reports inthe literature describe sporadic cases. A similar entity withblepharophimosis, arachnodactyly, and congenital contrac-tures was delineated by van den Ende et al [4] and Guptaet al [5].

We report an unusual presentation of the Marden-Walkerphenotype with an associated hemostatic problem, hyperlax-ity of the skin, and defective wound healing.

1. Case report

A 14-year-old girl with the Marden-Walker syndromewas referred to the emergency department with a massivesubcutaneous hematoma of the scalp after a fall on the right

⁎ Corresponding author. Tel.: +32 16 344290; fax: +32 16 344285.E-mail address: tom.theys@uz.kuleuven.be (T. Theys).

022-3468/$ – see front matter © 2011 Elsevier Inc. All rights reserved.oi:10.1016/j.jpedsurg.2011.01.006

temple 10 days earlier during her vacation. The patient hadbeen treated conservatively at another hospital withpercutaneous aspirations, compression bandage, and plate-let transfusions. On inspection, blood was continuouslyoozing from a small scalp laceration. The girl was anemicwith a hemoglobin level of 7.9 g/dL. Platelet count,prothrombin time, and activated partial thromboplastin timewere all normal. A computed tomography scan of the head(Fig. 1A, B) demonstrated a giant subcutaneous hematoma(thickness: 2.5 in) without evidence of any posttraumaticintracranial lesions. Imaging also showed stable Dandy-Walker complex with tetraventricular hydrocephalus andhypoplasia of the vermis. Operative intervention wasconsidered because of the huge size of the subcutaneoushematoma. Evacuation of the hematoma and closure of theminor scalp laceration were performed. A compressionbandage was applied postoperatively. Wound healing of theoverstretched scalp with massive skin abundance was slowand completed after a 4-month period of time. Repeatedtransfusions of multiple units of packed red blood cells andplatelets were necessary.

Cytogenetic examination revealed a normal karyotype (46,XX), and no abnormal loci could be demonstrated using highresolution microarray analysis (180k Cytosure ISCA v2).

Fig. 1 A and B, A huge scalp hematoma (1) with enormous stretching of the skin can be appreciated on the computed tomography images.Sagittal reconstructions also show tetraventricular hydrocephalus (2) and Dandy-Walker complex (3) with hypoplasia of the vermis. Aphotograph taken 3.5 months after the evacuation of the scalp hematoma (C) demonstrates poor and protracted wound healing. D, Spontaneoushematoma in the leg for which the patient had to be admitted 1 year later.

E36 T. Theys et al.

2. Discussion

This 14-year-old girl had an association of the Marden-Walker phenotype with a hemostatic problem, hyperlaxity ofthe skin, and defective wound healing. The patient was wellknown in our pediatric department because of multipledysmorphic features, typical for the Marden-Walker syn-drome, including arthrogryposis, craniofacial dysmorphism(consisting of a high and broad forehead, hypertelorism,blepharophimosis, low-set ears, a small mouth, and a smallnose with a short columella), and pectus deformity. Her

cognitive development was normal, and she was able toattend a regular school.

Remarkably, this patient also had specific skinabnormalities and defective hemostasis with recurrentintra-articular, subcutaneous, and intramuscular hemato-mas (Fig. 1D). These often giant hematomas developedafter trivial injury and led to profound anemia with a needfor repeated blood and platelet transfusions. Extensivelaboratory examination showed a normal platelet countwith normal platelet ATP secretion: prothrombin time,activated partial thromboplastin time, fibrinogen, vWF

E37Novel findings in the Marden-Walker syndrome

antigen–ristocetin cofactor–factor VIII activity, factor XI,factor XIII, and α2-antiplasmin were all normal. Bleedingtime was increased to 14 minutes (normal value rangesfrom 3 to 9 minutes), and desmopressin administrationreduced this delayed bleeding time. A platelet functionassay with usual agonists (testing platelet adhesion andaggregation with collagen/epinephrine and collagen/aden-osine diphosphate) showed normal results; platelets,however, showed an increased sensitivity to inhibitionby prostacyclin, thereby promoting inhibition of hemosta-sis. Electron-microscopic platelet examination revealedless dense-core granules but showed otherwise normalplatelet ultrastructure. Skin abnormalities consisted of avery thin and hyperlax skin that showed very poor anddelayed wound healing (Fig. 1C).

The described combination of a primary hemostaticdeficit, defective wound healing, and cutaneous hyperlaxitycould have resulted in such spectacular scalp hematoma after

trivial head injury. These particular features represent a novelassociation with the Marden-Walker phenotype.

References

[1] Marden PM, Walker WA. A new generalized connective tissuesyndrome. Am J Dis Child 1966;112(3):225-8.

[2] Fryns JP, Willekens D, Van Schoubroeck D, et al. Marden-Walkersyndrome versus isolated distal arthrogryposis: evidence that bothconditions may be variable manifestations of the same mutated gene.Clin Genet 1998;54(1):86-9.

[3] Ozkinay F, Ozyurek AR, Bakiler AR, et al. A case of Marden-WalkersyndromewithDandy-Walkermalformation. ClinGenet 1995;47(4):221-3.

[4] van den Ende JJ, van Bever Y, et al. Marden-Walker-like syndromewithout psychomotor retardation: report of a Brazilian girl born toconsanguineous parents. Am J Med Genet 1992;42(4):467-9.

[5] Gupta A, Hall CM, Ransley YF, et al. A new autosomal recessivesyndrome of characteristic facies, joint contractures, skeletal abnormal-ities, and normal development: second report with further clinicaldelineation. J Med Genet 1995;32(10):809-12.