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A case of incomplete Klippel-Trenaunay syndrome with schizophrenia and global cerebral atrophy

1 Department of Dermatology, Dr. D. Y. Patil Medical College and Hospital, Pune, Maharashtra, India
2 Department of Psychiatry, Dr. D. Y. Patil Medical College and Hospital, Pune, Maharashtra, India

Date of Submission22-Nov-2021
Date of Acceptance27-Nov-2021
Date of Web Publication04-Jan-2023

Correspondence Address:
Aayush Gupta,
C 2002, Empire Square Society, Chinchwad, Pune, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipj.ipj_240_21

How to cite this URL:
Jain S, Sharma YK, Vijay P, Saldhana D, Gupta A. A case of incomplete Klippel-Trenaunay syndrome with schizophrenia and global cerebral atrophy. Ind Psychiatry J [Epub ahead of print] [cited 2023 Jan 27]. Available from: https://www.industrialpsychiatry.org/preprintarticle.asp?id=367028

Klippel-Trenaunay Syndrome (KTS), a congenital malformation, is characterized by the triad of capillary malformation, venous varicosities (with or without lymphatic malformation), and limb overgrowth due to soft tissue and bone hyperplasia. Its clinical severity can range from mere cosmetic concerns to severe debilitation consequent to bleeding and deep vein thromboembolic episodes.[1] KTS can also be associated with abnormalities of the central nervous system (CNS) such as hydrocephalus, cerebral calcification, vascular malformations, cerebral and cerebellar hemihypertrophy.[2],[3] Rarely, neurological and/or psychiatric disorders such as mental retardation, seizures, or bipolar affective disorders have been described.[1],[4]

We herein report a 35-year-old female, product of a nonconsanguineous marriage, referred to the dermatology OPD from the psychiatry ward where she was currently admitted due to complaints of feeling irritable, restless, ineffective, withdrawn, and continually distracted from work since about a year. A day before the current admission, she had physically and violently attacked her brother without any provocation. She also felt that all her family members and acquaintances at work were plotting to harm her. The parents opined her to be oversensitive over trivial matters and worsening over the years to become almost insular. On examination, she was found to be aware of her physical problems and was compliant to commands. Mental status examination revealed formal thought disorder and first-rank symptoms of schizophrenia. She was diagnosed as having grade 3 paranoid schizophrenia, i.e., being aware of the illness but attributing it to external factors. History and examination on dermatologist referral revealed the presence of well-defined varicosities on her left arm [Figure 1] around the axilla [Figure 2], cubital fossa [Figure 3], and forearm since birth along with gradually increasing hypertrophy of the 4th and 5th digits [Figure 4] of the left hand since 2-year consistent with a diagnosis of incomplete KTS. Doppler of the axilla revealed grade 3 dilated veins with normal blood flow. Karyotyping, as also biochemical and hematological parameters, were found to be normal. Magnetic resonance imaging (MRI) brain revealed prominent ventricles, sulci, Sylvian-fissure, and basal-cisterns implying mild diffuse cerebral atrophy [Figure 5]. There was no evidence of midline shift, intracranial bleed, or diffusion restriction. Corpus striatum, neuroparenchyma, sellar and parasellar structures along with major intracranial vessels and dural venous sinuses showed normal flow voids.
Figure 1: Varicosities seen on the left axilla, cubital fossa, and forearm along with the hypertrophy of 4th and 5th digits

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Figure 2: Varicosities - left axilla

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Figure 3: Varicosities – left cubital fossa

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Figure 4: Varicosities seen on left forearm along with the hypertrophy of 4th and 5th digits

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Figure 5: Axial section of MRI brain in Flair mode at the level of ventricles showing a smaller total brain volume and prominent (a) ventricular system, (b) sylvian fissure and (c) sulci suggestive of mild cerebral atrophy

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The patient is currently responding well to aripiprazole along with cognitive therapy.

Structural brain abnormalities are well established in schizophrenia, with MRI consistently demonstrating a reduced global cerebral volume along with an increased lateral ventricular volume in its sufferers. Several studies have also reported these abnormalities to progress with time; with greater rates of progression being associated with a worse clinical prognosis. However, it remains unclear whether these changes are inherent to the disease processes underlying schizophrenia or are accelerated upon treatment with antipsychotic agents or other yet-unknown factors.[5]

Cerebral hemimegaloencephaly and hemihypertrophy are the most frequent CNS findings reported in up to 18% of patients with KTS.[3] However, global cerebral atrophy-the intracranial abnormality demonstrated in our case has been documented earlier in only two cases of KTS (along with bilateral facial vascular abnormality), though without any evidence of schizophrenia.[5],[6],[7]

The largest study exploring the psychosocial morbidities associated with KTS till date reported 23.2% of them to have a diagnosed psychiatric disorder (depression in 15% and anxiety in 5%), of which 15% had undergone treatment.[1] The study also reported that the highest prevalence of psychiatric disorder was seen in those above 50 years of age and concluded that KTS patients in pain had a significantly higher chance of developing a psychiatric condition.[1] This increased risk could be due to the diathesis-stress model which suggests that stress exposure on top of a preexisting vulnerability precipitates schizophrenia with increased risk of psychotic episodes.[8]

To the best of our knowledge, this forms the first reported concurrence of KTS and paranoid schizophrenia and combined with earlier studies highlights the need to investigate the likelihood of psychiatric conditions in people with KTS. Patients should thus be routinely asked about symptoms of pain, particularly when factors that are more likely to be associated with pain are present.[1] Future larger prospective studies with a longer follow-up are required to define the association between psychiatric disorders and KTS more clearly.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Cristaldi A, Vigevano F, Antoniazzi G, di Capua M, Andreuzzi A, Morselli G, et al. Hemimegalencephaly, hemihypertrophy and vascular lesions. Eur J Pediatr 1995;154:134-7.  Back to cited text no. 1
Torregrosa A, Martí-Bonmatí L, Higueras V, Poyatos C, Sanchís A. Klippel-Trenaunay syndrome: Frequency of cerebral and cerebellar hemihypertrophy on MRI. Neuroradiology 2000;42:420-3.  Back to cited text no. 2
Velayudhan L, Gangadhar BN. Bipolar affective disorder with Klippel-Trenaunay syndrome. Aust N Z J Psychiatry 2007;41:937-8.  Back to cited text no. 3
Fusar-Poli P, Smieskova R, Kempton MJ, Ho BC, Andreasen NC, Borgwardt S. Progressive brain changes in schizophrenia related to antipsychotic treatment? A meta-analysis of longitudinal MRI studies. Neurosci Biobehav Rev 2013;37:1680-91.  Back to cited text no. 4
Williams DW 3rd, Elster AD. Cranial CT and MR in the Klippel-Trenaunay-Weber syndrome. AJNR Am J Neuroradiol 1992;13:291-4.  Back to cited text no. 5
Lajiness-O'Neill R, Beaulieu I. Neuropsychological findings in two children diagnosed with hamartoses: Evidence of a NLD phenotypic profile. Child Neuropsychol 2002;8:27-40.  Back to cited text no. 6
McPhie ML, Bridgman AC, Kirchhof MG. A review of skin disease in schizophrenia. Dermatology 2021;237:248-61.  Back to cited text no. 7
Harvey JA, Nguyen H, Anderson KR, Schoch JJ, Bendel EC, Driscoll DJ, et al. Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome. J Am Acad Dermatol 2018;79:899-903.  Back to cited text no. 8


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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