CASE REPORT


https://doi.org/10.5005/jp-journals-10001-1557
International Journal of Head and Neck Surgery
Volume 14 | Issue 3 | Year 2023

Klippel–Trenaunay Syndrome with Hearing Loss: Is it the Cause? A Rare Case Report


Trilok C Guleria1https://orcid.org/0000-0001-5606-4095, Mahender Singh2, Ramesh Azad3, Narender K Mohindroo4

1Department of Otolaryngology–Head and Neck Surgery, Dr. Radhakrishnan Govt. Medical College, Hamirpur, Himachal Pradesh, India

2-4Department of Otolaryngology–Head and Neck Surgery, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India

Corresponding Author: Trilok C Guleria, Department of Otolaryngology–Head and Neck Surgery, Dr. Radhakrishnan Govt. Medical College, Hamirpur, Himachal Pradesh, India, Phone: +91 9418706446, e-mail: tcguleria@gmail.com

Received on: 26 July 2020; Accepted on: 04 August 2023; Published on: 18 October 2023

ABSTRACT

Two French physicians, Maurice Klippel and Paul Trenaunay, described two patients with hemangiomatous lesions of the skin and coined the term “nevus variqueux osteohypertrophique.” Klippel–Trénaunay syndrome (KTS) is characterized by a triad of capillary malformations, venous malformations, and soft tissue or bony hypertrophy. The etiology of the syndrome is unknown. Diagnosis of KTS is mainly clinical. An appropriate multidisciplinary approach to treatment and prevention of possible complications of KTS provides optimal care for the patient. KTS with hearing loss is a very rare presentation. We describe a case report of KTS in a 5-year-old boy associated with bilateral conductive hearing loss.

How to cite this article: Guleria TC, Singh M, Azad R, et al. Klippel–Trenaunay Syndrome with Hearing Loss: Is it the Cause? A Rare Case Report. Int J Head Neck Surg 2023;14(3):59–61.

Source of support: Nil

Conflict of interest: None

Keywords: Case report, Hemangiomatous, Nevus, Osteohypertrophique, Tranuanay, Variqueux

INTRODUCTION

The term “nevus variqueux osteohypertrophique” was first used by Maurice Klippel and Paul Trénaunay, around a century ago, to describe two patients who had hemangiomatous lesions of the skin along with asymmetric soft tissue and bone hypertrophy.1 Klippel–Trénaunay syndrome (KTS) was later used to describe the triad of capillary malformations, venous malformations, and soft tissue or bony hypertrophy.2 An incomplete form of KTS is defined as having at least two of the three cardinal features. Frederick Parks Weber later noticed the presence of these observations with arteriovenous fistulas, which is known as Klippel–Trénaunay–Weber syndrome.3 The cause of the syndrome is not known, but it has been suggested that it is caused by a somatic mutation associated with angiogenesis and vasculogenesis during the embryonic period.4 If the patient has bleeding from capillary or venous malformations or persistent embryonic veins, they may present with intramucosal, intramuscular, intraspinal, or intracerebral hemorrhage.5 Only two other cases of KTS that resulted in hearing loss have been reported. We describe a case report of KTS in a 5-year-old boy associated with bilateral conductive hearing loss.

CASE DESCRIPTION

A boy aged five is the patient who presented to the outpatient department with a history of decreased hearing in both ears for the last 1 year. There was no history of ear or head trauma, ear discharge, and nasal or ear infection. On otoscopic examination, there were bilateral bluish tympanic membranes (Fig. 1). On further examination, there was a port wine stain involving the right upper limb, right half of the trunk, and right lower limb. There was also present right upper limb hypertrophy and bluish sclera. Then the patient was diagnosed with KTS. On ophthalmic examination, the vision was within normal limits, and no other ocular abnormality was seen. The audiometric evaluation showed bilateral moderate conductive hearing loss [right = 41.66 dB hearing level (HL) and left = 43.33 dB HL] with B type of tympanogram (Fig. 2). All the bleeding parameters were within normal limits. High-resolution computed tomography (HRCT) of the temporal bone revealed soft tissue density involving mastoid air cells and the middle ear on both sides; no other abnormality was found (Fig. 3). Magnetic resonance imaging (MRI) revealed a normal study of the brain and showed fluid intensity in mastoid air cells and the middle ear on both sides. The patient was treated conservatively with antibiotics and nasal decongestants. The patient showed partial response to the treatment and was under routine follow-up for further treatment options.

Fig. 1: Showing bluish tympanic membrane (0° endoscopic examination)

Fig. 2: Showing bilateral moderate conductive hearing loss (right = 41.66 dB HL and left = 43.33 dB HL) (Pure Tone Audiogram)

Fig. 3: Showing soft tissue density involving mastoid air cells and middle ear on both sides (HRCT temporal bone)

DISCUSSION

There are several case reports of KTS in the literature. But, the incidence and genetic background of this rare disease have remained unknown.1 Numerous hypotheses have been raised and research into the syndrome’s origins is ongoing. In 1998, Berry et al. hypothesized that KTS may have altered angiopoietin-2 antagonistic activity, which may have affected vascular remodeling.4

The diverse symptoms of KTS can be mistaken for Parkes–Weber syndrome. The difference between KTS and Parkes–Weber syndrome is the lack of clinically significant arteriovenous shunting.6

Diagnosis of KTS is mainly clinical. The evaluation of the type, nature, and severity of the malformation should be the main goal of investigations in KTS. The patient receives the best care when a proper multidisciplinary approach is used in the treatment and prevention of potential KTS complications. The management of KTS has been largely conservative.7

Only two other reports of KTS linked to hearing loss have been found in the literature. Ishimoto et al. reported one case in which a 7-year-old boy had severe left-sided sensorineural hearing loss with an HL of 65 dB. Imaging studies showed a significant ipsilateral venous malformation at the cerebellopontine angle in the vicinity of the eighth cranial nerve, which was hypothesized to have caused the macrovascular sensorineural hearing loss by interfering with cochlear function.8 Suver et al. described another case in which a 14-year-old girl had been found to have ipsilateral mixed hearing loss. A large bony protuberance from the lateral cochlear labyrinth was noticed on temporal bone CT scanning, extending from the base of the cochlea to the pars tensa and close to the malleus and stapes. The scutum had thickened slightly.9

Our patient’s conductive hearing loss appears to be caused by a hemorrhage in the middle ear cleft with a direct effect on the tympanic membrane and ossicles’ movement, contrary to previous reports of KTS and hearing loss. No macrovascular anomalies were noted. HRCT temporal bone revealed soft tissue density involving mastoid air cells and the middle ear on both sides, and MRI scanning revealed a normal study of the brain.

CONCLUSION

The KTS with hearing loss is a very rare presentation. The cause of hearing loss in this syndrome is not well understood and unusual presentation in all reported cases. As a result, we recommend that hearing screenings be performed on these patients to learn more about the etiology of hearing loss.

DISCLAIMER

Written consent was obtained from the patient regarding the use of images from their CT scan and reporting of this case.

ORCID

Trilok C Guleria https://orcid.org/0000-0001-5606-4095

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