case_images: PMC10481842_01
case_images: (a) Photo of face showing trichilemmoma (anterior view). (b) Photo of face showing trichilemmoma (anterolateral view). (c) Patient had neck swelling. Later confirmed by ultrasonogram as multinodular goiter with thyroiditis. (d) Soft swelling in lateral aspect of wrist joint. (e) Trichilemmoma of the thigh.
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case_images: F1
case_images: Physical examination findings are shown in Figure 1.
case_images: Initial contrast-enhanced computed tomography (CT) scan of brain (a) axial image and (b) sagittal section showing ill-defined hypodense area with mild heterogeneous enhancement in right cerebellum involving middle cerebellar peduncle having perilesional edema and mass effect compressing pons, effacement of 4th ventricle resulting mild dilatation of both lateral and 3rd ventricles.
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case_images: F2
case_images: Computed tomography (CT) scan revealed a mildly heterogeneously enhancing mass lesion in the right cerebellar hemisphere with significant compression over pons and causing tri-ventriculomegaly [Figures 2 and 3].
case_images: Pre-operative computed tomography (CT) scan of the head of the patient. CT feature consistent with mild heterogeneously enhancing mass lesion in right cerebellum and mass effect resulting involving middle cerebellar peduncle having perilesional edema triventriculomegaly.
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case_images: F3
case_images: Computed tomography (CT) scan revealed a mildly heterogeneously enhancing mass lesion in the right cerebellar hemisphere with significant compression over pons and causing tri-ventriculomegaly [Figures 2 and 3].
case_images: (a) Preoperative magnetic resonance imaging (MRI) of the brain of the patient. (a) T1 contrast axial sequences, (b) T1 contrast: coronal sequence, (c) T1 contrast: sagittal sequence, (d) T2-weighted image (T2WI) coronal Sequence, (e) T2WI axial sequence, (f) T2WI axial image focusing on cerebellar lesion, (g) T1-weighted image (T1WI) sagittal sequence, (h) T1 WI axial, and (i) diffusion-weighted imaging sequence. Contrast-enhanced MRI scan of brain showing mild heterogeneously enhancing, tigroid, or striated mass lesion on right cerebellum involving middle cerebellar peduncle having perilesional edema and mass effect compressing pons, effacement of 4th ventricle resulting tri-ventriculomegaly; suggestive of low-grade glioma. Differential - medulloblastoma, Lhermitte-Duclos Disease (LDD) (which was later confirmed in histopathology to be LDD).
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case_images: F4
case_images: Magnetic resonance imaging (MRI) scan T1-weighted image film revealed mixed intensity posterior fossa lesion and T2-weighted image film revealed an inhomogeneous hyperintense lesion with almost preserved cerebellar cortical striations [Figure 4].
case_images: (a) Multiple gallbladder (GB) polyps with cholelithiasis; two mobile bright echogenic structures (marked in red arrows) in the lumen of gallbladder casting distal acoustic shadows (Larger one 1.5 x 0.6 cm). Numerous soft-tissue echogenic structures without acoustic shadows are seen adherent with both anterior and posterior wall. (b) Multiple GB polyps (5 or more) with pigmented stones after cholecystectomy.
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case_images: F5
case_images: Before making the diagnosis of cholelithiasis, an ultrasonogram (USG) was done due to her complain of frequent abdominal pain [Figure 5a]. The resected gallbladder specimen revealed multiple adenomatous polyps [Figure 5b] and was also confirmed in histopathology. Thyroid function was normal [Figure 5].
case_images: Ultrasonogram of neck suggestive of multinodular goiter with thyroiditis.
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case_images: F6
case_images: Figure 6 shows the USG of neck illustrating multinodular goiter with thyroiditis.
case_images: First postoperative day computed tomography scan. Large irregular mixed density area seen in the right cerebellum and extends in the right cerebellopontine angle region. Mass effect is evident by effacement of 4th ventricle and shifting of mid line towards left right side. Postoperative pneumocephalus and edema seen in right cerebellum and temporal lobe.
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case_images: F7
case_images: Figure 7 shows a postoperative CT scan.
case_images: Histopathology report of the cerebellar SOL suggestive of Lhermitte-Duclos Disease. These reveal glial tissue containing elongated fibers and small vacuolated spaces. It also reveals scattered large ganglion cells with irregular margin and large nuclei. Normal cerebellar tissue is not present in the specimen.
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case_images: F8
case_images: The subsequent histopathology of the resection lesion confirmed it to be a case of LDD [Figure 8].
case_images: Suggestive features of the presented patient to Cowden syndrome.
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case_images: F9
case_images: Figure 9. Finally, all these clinical findings lead to a diagnosis of CS.