Utility of Intraoperative Ultrasound in Surgical Management of Lhermitte–Duclos Disease: A Case Report

Abstract

Lhermitte–Duclos disease (LDD) is a rare, autosomal dominant, dysplastic gangliocytoma of the cerebellum. It is a slow-growing benign tumor. The challenges in the surgical resection of these tumors lie in accurately delineating the tumor margin from the normal cerebellar parenchyma. Intraoperative ultrasound has the potential to overcome these limitations. A 30-year-old woman was diagnosed as having LDD showing a typical “tigroid” appearance on MRI. Intraoperative ultrasound was used to delineate the tumor margins and near-total resection was done via right suboccipital craniectomy. The diagnosis was confirmed on histopathological examination. Postoperatively there were no neurological deficits, and the patient is on regular follow-up for screening of Cowden's syndrome. We report this case to highlight the undervalued utility of intraoperative ultrasonography while dealing with patients with LDD. This modality serves as an effective tool to maximize the extent of resection without adding to postoperative morbidity.

 

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Keywords

Lhermitte–Duclos disease - dysplastic gangliocytoma - Cowden's syndrome - intraoperative ultrasound - tigroid appearance

Introduction

Lhermitte–Duclos disease (LDD) is a rare, slowly progressive, unilateral dysplastic gangliocytoma of the cerebellum of unknown etiology, affecting patients as young as 3 years to as old as 75 years of age.[1] [2] Cowden's syndrome is an autosomal dominant disorder characterized by multiple hamartomas and is associated with malignancies of the breast, thyroid, endometrium, kidney, colon, and skin.[3] Its nonmalignant manifestations include benign breast lumps, gastrointestinal polyps, uterine fibroids, thyroid adenomas, and various mucocutaneous lesions.[4]

The magnetic resonance imaging (MRI) features of a striated pattern with a tigroid appearance is the hallmark for a preoperative diagnosis of LDD. The management of LDD is solely surgical as it is resistant to both chemotherapy and radiation. The difficulty in surgical resection is in accurately delineating the tumor margin from the normal cerebellar parenchyma. Intraoperative ultrasound (IOUS) has the potential to aid in precise demarcation of tumor/diseased parenchyma.

To date, only one case in medical literature discusses the use of IOUS in the operative management of LDD. We present the second such case highlighting the utility of IOUS in surgical management of LDD.

 

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Case Report

A 30-year-old woman presented to our outpatient department with a history of giddiness and persistent headache for the past 6 months with one episode of vomiting. She also had imbalance while walking for the past 3 months. Her medical history was unremarkable, with no neurological disease among her first-degree relatives. On examination, the patient was conscious and oriented to time, place, and person. Her vital signs were stable. She had ataxia with a wide-based gait. Romberg's sign was positive. Cerebellar signs like right-sided finger to nose test, finger to finger test, and dysdiadochokinesia were positive. Her noncontrast computed tomography (NCCT) of the brain showed a right-sided, hypodense, intraparenchymal cerebellar mass. No calcifications or peripheral hemorrhagic areas were seen. MRI of the brain with contrast revealed a large diffuse ill-defined intra-axial lesion of approximately 5.5 × 6.0 × 3.5 cm in the right cerebellar hemisphere with mass effect and distortion of the fourth ventricle and upstream hydrocephalus. There was an unclear boundary between the lesion and normal tissue. The mass was hyperintense with apparent cortical striations in T2-weighted (T2W) image and distinct striated hyperintensity in diffusion-weighted imaging in the right cerebellar hemisphere. Hence, a diagnosis of LDD was made based upon these characteristic radiologic findings ([Fig. 1]).

Fig. 1 (A) Axial cut of noncontrast computed tomography (NCCT) of the brain showing right-sided hypodense intraparenchymal cerebellar mass. (B, C) Coronal T2-weighted (T2W) and axial fluid-attenuated inversion recovery (FLAIR) sequence of brain magnetic resonance imaging (MRI) showing the classical tigroid appearance with a widened cerebellar folia.

In view of the features of raised intracranial pressure, the patient underwent near total resection of the tumor via right suboccipital craniectomy. Intraoperatively, the tumor was pale, soft in consistency, moderately vascular with indistinct planes between normal and diseased areas. On using USG, a distinct plane was found between the normal and diseased areas (not visible to the naked eye), which was utilized to maximize the extent of resection. The tumor was aspirable with suction and Cavitron ultrasonic surgical aspirator ([Fig. 2]).

Fig. 2 (A) Intraoperative images showing pale tumor with cerebellar hemisphere markedly thickened and enlarged. (B) Tumor that is indistinguishable from surrounding normal tissue. (C) Tumor bed postresection.

In our case, IOUS was done to delineate the tumor margins, which showed hyperechoic thickening of the cortices with edematous hypoechoic signal resembling typical striated appearance in T2W image. Postoperative residual cavity was confirmed with IOUS ([Fig. 3]).

Fig. 3 (A) Hyperechoic tumor with (B) hyperechoic thickened cortices (marked by black arrows) and hypoechoic edematous signal in between (yellow arrow) correlating with a striped appearance as seen on magnetic resonance imaging (MRI) of the brain.

The histological examination revealed remarkably altered cerebellar architecture with expanded molecular layer, loss of Purkinje cells, and replacement of the normal molecular and granular layers by scattered dysplastic ganglion cells with vascular proliferation, which confirmed the diagnosis of LDD.

The postoperative period was uneventful. Postoperative imaging showed adequate decompression and no residual lesion. Postoperative screening for Cowden's syndrome was done to look for associated malignancy of the thyroid, kidney, endometrium, and colon, which was found to be negative. She is on regular follow-up for surveillance for early diagnosis of associated malignancies ([Fig. 4]).

Fig. 4 (A) One-year follow-up coronal T2-weighted (T2W) magnetic resonance imaging (MRI) and (B) axial T2W image with hyperintense surgical cavity and (C) axial postcontrast T1W image with no residual lesion or recurrence.

 

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Discussion

LDD or dysplastic gangliocytoma of the cerebellum was first described by the French neurologist and neuropsychiatrist Jacques Jean Lhermitte and his physician colleague P. Duclos in 1920.[5] The 2016 World Health Organization classification of tumors of the central nervous system classifies LDD as a group of “neuronal and mixed neuronal-glial tumors.” With only around 300 cases reported in the literature until now, its epidemiology remains largely unknown. Most cases have been documented to occur in the third to fourth decade. Preoperative diagnosis is based on medical history, physical examination, and imaging studies. The chief complains include ataxia, wide-based gait, and nystagmus. Nausea and vomiting are the chief symptoms in children.[6] Common clinical manifestations include signs of cerebellar dysfunction and a secondary hydrocephalus due to mass effect in the posterior fossa.

MRI is considered the diagnostic modality of choice for LDD. The striated pattern of LDD on MR images is so unique that a preoperative diagnosis can be reasonably made. It shows widened cerebellar folia with the characteristic striated pattern of the cerebellum, known as the tigroid appearance in the T2 images.[7]

IOUS is thought to be a useful real-time assessment tool for precise and accurate information intraoperatively. As compared to costly intraoperative MRI and CT, it offers the same result in a cost-effective manner. Ever since the first description of use of sonography in neurosurgery in 1978, there has been a significant advancement in image resolution, probe size, and engineering.[8] With these advancements, IOUS has established varied applications in neurosurgery, namely, biopsy procedures, identifying perioperative hemorrhage, positioning of catheters, estimating volume, and assessing the integrity of tumor resections and calculating residual tumor. In our case, tumor margins could not be delineated by the naked eye and IOUS was the game changer. Hyperechoic thickening of the cortices with edematous hypoechoic signal on IOUS resembled typical striated manifestation in T2W MRI. We utilized these findings to aid in localizing the tumor, achieving maximal and adequate surgical resection in real time, while reducing the possibility of damaging normal tissue.

Total surgical resection remains challenging due to the absence of a visible clear margin between the normal cerebellum and the tumor intraoperatively. Subtotal or partial resection has been acceptable owing to the above limitations.[9] Our use of IOUS proved crucial in precisely defining the margins of the LDD within the cerebellum, a distinction not attainable through a microscope or an endoscope.

As LDD is classified as WHO grade I disease, no adjuvant postoperative therapy is required. But recurrence is reported in patients with subtotal resection of tumor. The recurrence or malignant transformation of the tumor should be followed up with MRI of the brain at regular intervals.[10] Its association with Cowden's syndrome should be recognized, and clinical investigations should be done for surveillance of possible associated malignancies.

 

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Conclusion

LDD is a relatively rare tumor with surgery as its mainstay of treatment. The utility of IOUS as a means to improve the accuracy of surgical resection has been recorded in the literature only once previously. With this report, we hope to further establish the role of IOUS as real-time intraoperative tool for complete and accurate excision of tumor in LDD.

 

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Conflict of Interest

None declared.

• References

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Publikationsverlauf

Artikel online veröffentlicht:
18. März 2025