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 Table of Contents  
Year : 2021  |  Volume : 2  |  Issue : 2  |  Page : 147-154

Neurocutaneous syndromes: Imaging of systemic manifestations

1 Junior Resident, Department of Radiodiagnosis and Imaging, AIIMS, Rishikesh, Uttarakhand, India
2 Senior Resident, Department of Radiodiagnosis and Imaging, AIIMS, Rishikesh, Uttarakhand, India
3 Professor and HOD, Department of Radiodiagnosis and Imaging, AIIMS, Rishikesh, Uttarakhand, India
4 Additional Professor, Department of Radiodiagnosis and Imaging, AIIMS, Rishikesh, Uttarakhand, India
5 Associate Professor, Department of Radiodiagnosis and Imaging, AIIMS, Rishikesh, Uttarakhand, India

Date of Submission18-Dec-2020
Date of Decision26-Dec-2020
Date of Acceptance02-Feb-2021
Date of Web Publication04-Jun-2021

Correspondence Address:
Dr. Reshma Varghese
Junior Resident, Department of Radiodiagnosis and Imaging, AIIMS, Rishikesh, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JME.JME_80_20

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Neurocutaneous syndromes are a diverse group of inherited disorders with variable penetrance affecting structures developing from neuroectoderm. They are not appropriately evaluated, and these disorders are lifelong conditions that can cause tumours to grow in the skin, viscera and central nervous system. More than 30 entities are included in this group. Our pictorial review describes imaging of systemic features of common neurocutaneous syndromes such as neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis, Sturge–Weber syndrome and Von Hippel–Lindau syndrome. The imaging modalities of choice are magnetic resonance imaging and computed tomography (CT). Although advances in molecular imaging can determine genetic abnormality, a radiological examination is required for early identification of lesions, monitoring disease progression and further management. Our review aims to familiarise our readers with common neurocutaneous syndromes and imaging of their systemic manifestations.

Keywords: Neurofibromatosis 1, neurofibromatosis 2, Sturge–Weber syndrome, tuberous sclerosis, Von Hippel–Lindau disease

How to cite this article:
Varghese R, Nandolia K, Saxena S, Syed A, Sharma P. Neurocutaneous syndromes: Imaging of systemic manifestations. J Med Evid 2021;2:147-54

How to cite this URL:
Varghese R, Nandolia K, Saxena S, Syed A, Sharma P. Neurocutaneous syndromes: Imaging of systemic manifestations. J Med Evid [serial online] 2021 [cited 2022 Aug 10];2:147-54. Available from: http://www.journaljme.org/text.asp?2021/2/2/147/324979

  Introduction Top

Neurocutaneous syndromes are a diverse group of inherited disorders with variable penetrance affecting structures developing from neuroectoderm. These disorders are lifelong conditions that can cause tumors to grow in the skin, viscera and central nervous system (CNS). Radiological imaging analysis plays a pivotal role in its early diagnosis and further management.

  Discussion Top

Neurocutaneous syndromes

Neurocutaneous syndromes are also known as phakomatosis, an autosomal dominant group of disorders occurring due to defects in the development of ectodermal structures, i.e., the nervous system, the skin, the retina, the eyeball and its contents, sometimes mesodermal and endodermal elements. The term 'neurocutaneous syndromes' was introduced by Yakovlev and Guthrie in 1931. Most common among neurocutaneous syndromes are tuberous sclerosis, neurofibromatosis, Sturge– Weber syndrome More Details and Von Hippel-Lindau (VHL) syndrome.

Sturge–Weber syndrome

Sturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome, also known as encephalotrigeminal angiomatosis. It is named in honour of two British physicians Dr. William A Sturge and Dr. Frederick Weber. It is characterised by facial port-wine stain, leptomeningeal angiomatosis, congenital glaucoma, intractable epilepsy and progressive mental retardation.[1] Incidence is 1 in 50,000. SWS is caused by a mutation in the GNAQ gene, which forms a protein involved in blood vessels growth regulation. GNAQ gene mutation leads to increased growth of blood vessels. Abnormal proliferation and persistence of foetal cortical vessels lead to cortical anoxia. This gene mutation is found in some but not all the cells of the body. Gene mutations show incomplete penetration and sporadic inheritance.[2] SWS has three different types based on the site of expression of the mutant gene – Type I with facial and leptomeningeal angiomatosis; Type II with facial angioma without CNS involvement, with or without glaucoma presence and Type III with isolated leptomeningeal angiomatosis.

Radiological investigations, such as computed tomography and magnetic resonance imaging (MRI), play a pivotal role in demonstrating the cerebral changes. Atrophy is a common imaging finding and is more pronounced as compared to calcification and leptomeningeal enhancement. MR is more sensitive than CT in detecting subtle, focal atrophy because of better soft-tissue contrast. Extensive atrophy may result in compensatory enlargement of diploe spaces of the skull base and vault bones, manifesting as paranasal sinus and mastoid hypertrophy and elevation of the petrous apex. Osseous changes are best appreciated on CT.[3]

The most familiar calcification pattern in SWS is dense, calcification subjacent to the abnormal meninges parallel to the gyral surface, resulting in a typical tram-track appearance[3] [Figure 1]. Leptomeningeal enhancement on post-contrast TI-weighted MR imaging is taken as the gold standard when assessing the extent of disease in SWS[3] [Figure 2]. Lack of normal superficial cortical venous drainage leads to venous diversion into the deep system, causing enlargement and calcification of the choroid plexus of the affected hemisphere [Figure 2].[4] Dilated or prominent ipsilateral atrial vein is a common finding due to impaired superficial venous drainage.[3]
Figure 1: Case of 11 year old female who presented with characteristic staining of face, mental retardation and seizure disorder since birth. SWI images shows curvilinear foci of susceptibility along gyral surface of left parieto-occipital lobe

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Figure 2: In the same case as in figure 1, post contrast axial images of the brain show leptomeningeal enhancement along the left parieto occipital region, and the left lateral ventricle choroid plexus is enlarged and shows marked post contrast enhancement

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Tuberous sclerosis

Tuberous sclerosis complex (TSC) is one of the most common neurocutaneous syndromes. It is an autosomal-dominant disease, first described by Bourneville in 1880. TSC is characterised by widespread hamartomas and benign, or rarely, malignant multisystem neoplasms. It is caused by a mutation in TSC1 and TSC2 genes. More than 1500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense and missense mutations, are described. All the pathogenic mutations are inactivating, leading to loss of function of encoded proteins TSC1 and TSC2.[5] These proteins form a complex to constitutively inhibit the mechanistic target of rapamycin (mTOR) signalling cascade. Due to TSC protein function loss, mTOR signalling is constitutively active within all TSC-associated lesions.[5] It manifests with different symptoms or may go unnoticed till the adulthood, to present late with fatal complications. Nearly all the patients develop skin manifestation, characterised by melanotic patches, angiofibroma and shagreen patches. Identifying the dermatological manifestations is the first step in diagnosing TS, as it is one of the major criteria. The CNS is involved in more than 80% of individuals, manifesting as cortical tubers, radial bands, subependymal nodules and subependymal giant cell astrocytomas (SGCA). Cortical tubers are hamartomatous lesions consisting of dysmorphic neurons. Despite their benign nature, cortical tubers are epileptogenic. Patients with multiple cortical tubers tend to have more cognitive impairment and more difficulty with seizure control.[6] Cortical tubers appear as T2/fluid attenuated inversion recovery (FLAIR) hyperintense wedge-shaped areas in the cortical and subcortical locations. Only 10% of the cortical tubers show post-contrast enhancement[7] [Figure 3] and [Figure 4]. In neonates, cortical tubers are difficult to diagnose as unmyelinated white matter (WM) appears hyperintense on T2WI. Subependymal nodules are subependymal heterotopic grey matter foci found along lateral ventricles. They are usually smaller than 1 cm and are perpendicularly oriented to the ependymal lining. CT is an excellent modality to detect calcified subependymal nodules. These nodules appear hyperintense on T1WI and iso–hyperintense on T2WI and FLAIR images [Figure 3] and [Figure 4].
Figure 3: A 32 year old male, presented with seizure disorder since childhood. Axial section T1/T2/FLAIR images shows few well defined tiny nodules in subependymal region of bilateral lateral ventricles (A), altered signal intensity in subcortical and deep white matter with expansion of overlying gyri (B) and radial lines are seen extending from periventricular white matter to subcortical white matter radial bands (C)

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Figure 4: A case of 21 years old male who presented with sudden onset respiratory distress. Axial T2FLAIR, T2W and SW MR images of the brain show T2 hypointense radially arranged lesions in the left frontal lobe showing susceptibility artefacts - suggestive of calcified cortical tubers (thin arrow). Subependymal nodules are seen along the right frontal horn (Curved thin arrow). T1hyperintense, T2 iso-hyperintense lesion is seen in the foramen of Monro - suggestive of subependymal giant astrocytoma (thick arrow)

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Subependymal nodules can degenerate into SGCA in 5%–10% of the cases.[8] SGCAs are characterised by proliferative astrocytes and giant cells, with a prevalence of 1.7%–26% in patients with TS.[9] The most common site for SGCAs is the foramen of Monro. Rarely, they can arise along the third ventricle and can cause obstructive hydrocephalus. At the 2012 Washington Consensus Conference, the expert panel defined SGCAs as a lesion at the caudothalamic groove with either size of more than 1 cm in any direction or a subependymal lesion at any location that shows serial growth on consecutive imaging regardless of size.[10] Most SEGA-Subependymal Gaint Cell Astrocytoma (SEGAs) will show avid post-contrast enhancement [Figure 4] and [Figure 5].[11],[12]
Figure 5: In the same case, as in figure 4, post-contrast T1W axial MR image shows heterogeneous enhancement of the lesion near the foramen of Monro – consistent with subependymal giant astrocytoma (thick arrow).

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Radial bands are the second most common WM abnormality after cortical tubers. Radial bands are neuronal migration defects. On T2/FLAIR sequences, they appear as a linear or curvilinear area of increased signal intensity extending from the ventricle to the cortex [Figure 3]. Cyst-like WM lesions are small well-demarcated lesions with an intensity similar to that of cerebrospinal fluid. They are seen in deep WM, typically near the lateral ventricles.[8],[13] Few characteristic bony lesions are also seen [Figure 6].
Figure 6: A 34 years old male patient, who is a known case of tuberous sclerosis. Sagittal T2WI image of the lumbar spine shows multiple well-defined T2 hypointense lesions with T2 hyperintense rim (arrows).

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Pulmonary involvement of TS includes lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH). LAM occurs due to the proliferation of interstitial smooth muscle cells and cyst formation. The hallmark feature of LAM is the presence of diffuse, well-circumscribed, thin-walled cysts distributed uniformly throughout the lungs[13],[14] [Figure 7]. Most of the patients present with dyspnoea. Spontaneous pneumothorax and chylous pleural effusion are the two major complications of pulmonary LAM[13] [Figure 7] and [Figure 8]. MMPHs are hamartomatous nodules of 1–8 mm in diameter[15] diffusely scattered throughout the lungs in a random distribution with regard to the secondary pulmonary lobule.
Figure 7: A 32 years old male, presented with breathlessness and he also had a history of seizure disorder since childhood. Axial CT image in lung window shows multiple thin-walled sub-pleural cysts in both lungs (thick arrow) with bilateral pneumothorax and pneumomediastinum

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Figure 8: In the same case as in figure 7, coronal reformatted CT images of thorax and abdomen and axial CT image of pelvis show marked emphysema involving the soft tissue planes of the neck, chest wall, and abdominal wall

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Angiomyolipomas are another benign tumours, found in 70%–80% of patients with TSC.[13],[16] They can be asymptomatic or can present with complications such as spontaneous rupture and hemoperitoneum. CT scan can detect the presence of fat in the lesion and hence is a better modality [Figure 9]. Chemical shift MRI with in-phase and out-phase sequences is more sensitive for detection of a microscopic fat component within the lesions, which appears as a signal drop on the out-phase images [Figure 10]. Other renal manifestations include renal cell carcinoma (RCC) and cyst [Figure 11], which are very rare.
Figure 9: In the same case as in figure 7, Coronal contrast- enhanced CT image shows heterogeneously enhancing hypodense lesions in both kidneys

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Figure 10: In the same case as in figure 9, axial in-phase and out-phase MR images at the level of the kidneys show a well-defined lobulated lesion in the lower pole of the right kidney, with few areas of signal drop in out-phase images

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Figure 11: A 32-year-old male, who is a known case of tuberous sclerosis. Coronal T2W image shows multiple variable-sized pure cystic lesions in bilateral kidneys

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Two main subtypes of neurofibromatosis are neurofibromatosis type 1 (NF1) and NF2. The most common cutaneous manifestation in neurofibromatosis is café au lait spots.

NF1, or von Recklinghausen disease, is one of the most common neurocutaneous syndromes. It is an autosomal dominant multi-system disorder occurring due to mutation in the NF1 gene located on the chromosome 17. Neurofibromin is the gene product of NF1 gene, which acts as a tumour suppressor. It affects 1 in 4000 of the population.[17] Neurofibroma is the hallmark of NF1, which is a benign nerve sheath tumour.

Diagnostic criteria

NF1 is diagnosed when two or more of the following criteria are met:

  1. Six or more café-au-lait spots
  2. One plexiform neurofibroma
  3. Two or more iris hamartomas (Lisch nodules)
  4. Axillary or inguinal freckling
  5. Optic nerve glioma
  6. First-degree relative with NF-1
  7. Presence of characteristic bone lesion like pseudoarthrosis, dysplasia of greater wing of the sphenoid.

Plexiform neurofibroma is a characteristic lesion of NF1. Plexiform neurofibromas are tortuous long segment expansions involving cutaneous nerves and their branches, extending beyond the epineurium into the surrounding tissue.[18] Although any nerve can be involved, the trigeminal nerve is more frequently involved. On MRI, plexiform neurofibromas are T1 isointense lesions with strong post-contrast enhancement. Classical target appearance is seen on T2-weighted images. Lesion centre contains a fibrocollagenous component and hence appears T2 hypointense. The lesion periphery contains a myxoid component and hence appears T2 hyperintense. Plexiform neurofibromas within the pelvis often appear as large, extensively infiltrating masses in the presacral or gluteal regions [Figure 12]. Localised neurofibromas are the most common subtype of neurofibroma encountered in patients with NF1 [Figure 13]. Scoliosis is the most common osseous complication of NF1, affecting about 21% of the patients.[19] Dystrophic scoliosis, which is characteristic of NF1, progresses more rapidly and has a poorer prognosis as compared to other scoliosis subtypes.[19] Usually, a short segment involvement of the thoracic spine is seen. Other skeletal manifestations include pseudoarthrosis of long bones and hemihypertrophy of the limbs.
Figure 12: A 10 years old male patient, who is a known case of type 1 neurofibromatosis. Coronal STIR image of the thighs shows plexiform neurofibromata extending along intermuscular and subcutaneous planes of the right thigh.

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Figure 13: A 30 years old female, who is a known case of neurofibromatosis type 1. Sagittal T1W, T2W, and coronal STIR MR images show left intercostal (white arrow) and multiple small subcutaneous neurofibromata (black arrows)

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Dural ectasia is seen in form of the widening of the spinal dural sac or spinal nerve root sleeves[20] [Figure 14] and [Figure 15]. Scalloping of the posterior vertebral cortex is common in dural ectasia associated with NF1 and is diagnosed when the depth of scalloping is >3 mm in the thoracic spine or >4 mm in the lumbar spine[21] [Figure 14] and [Figure 15].
Figure 14: 20-year-old male patient, who is a known case of neurofibromatosis type 1. Sagittal T2WI MR image of the cervical spine shows dural ectasia with scalloping of the posterior border of vertebral bodies from C4 to D2 levels

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Figure 15: In the same case as figure 14, sagittal T2W MR image of the lumbosacral spine shows dural ectasia with scalloping of posterior vertebral bodies

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Sphenoid dysplasia is characteristic of NF1. Either greater or lesser wing can be hypoplastic, leading to enlargement of the middle cranial fossa [Figure 16] giving the appearance of bare orbit sign [Figure 17]. Posterosuperior orbital wall hypoplasia is attributed to mesodermal dysplasia. However, a review suggests that the dysplasia may be secondary to interactions of orbital bones with plexiform neurofibromas in early life.[22],[23] Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital–facial involvement. Retinal manifestations are infrequent [Figure 18].
Figure 16: 21 years old male patient, a known case of neurofibromatosis type 1. Axial T2FLAIR MR image of the brain shows asymmetrical dilatation of the right lateral ventricle

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Figure 17: In the same case as figure 16, axial T1W MR image of the brain, at the level of temporal lobes, shows sphenoid dysplasia (a). Axial bone window CT image at the corresponding level shows the absence of right half of body of the sphenoid, right greater and lesser wings (b)

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Figure 18: In the same case of NF1. Sagittal T2W MRI image and corresponding sagittal reformatted CT image of the brain show anteroinferior displacement and retinal detachment of the right eye globe

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NF2 is also an autosomal dominant disorder due to NF2 gene on mutation in chromosome 22. The protein encoded by this gene is a tumour suppressor protein – Merlin. The classic feature of NF2 is schwannoma arising from bilateral eighth cranial nerves, [Figure 19] and less commonly from third to fifth cranial nerves [Figure 20]. The most common clinical presentation will be hearing loss. Other CNS tumours associated with NF2 are multiple meningiomas, endolymphatic sac tumours (ELSTs) and ependymomas [Figure 21].
Figure 19: 34-year-old female, a known case of NF2. Axial T1W/T2W/T2FLAIR images show bilateral cerebellopontine angle tumors (white arrows) causing the widening of porous acusticus with intra-canalicular extension

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Figure 20: In a known case of NF2. Coronal T2W MR image shows a spindle- shaped lesion in the left infra-temporal fossa with intracranial extension through widened foramen ovale - a trigeminal nerve schwannoma.

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Figure 21: In a known case of NF2. Coronal and sagittal STIR MR images of the cervical spine show a centrally located intra-medullary lesion (white arrow) in the proximal cervical cord causing cord expansion with a short segment distal syrinx formation (thin black arrow)

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In 1998, the National Institute of Health revised the diagnostic criteria for NF-2.

Definite diagnostic criteria are:

  • Bilateral CN VIII schwannomas on MRI or CT scan (no biopsy necessary)
  • First-degree relative with NF-2 and either unilateral early-onset CN VIII schwannomas (age <30 years) or any 2 of the following:
  • Meningiomas, gliomas, schwannomas, neurofibromas and juvenile posterior subcapsular lenticular opacity.

Von Hippel–Lindau syndrome

VHL syndrome is a familial neoplastic condition seen in approximately 1 in 36,000 live births.[24] It is an autosomal dominant disorder caused by germline mutations of the tumour suppressor gene VHL, located on the short arm of chromosome 3. The gene encodes two protein isoforms, a full-length 30-kDa protein (pVHL30) and a smaller 19-kDa protein (pVHL19), generated by alternative translation initiation.[25] The VHL gene product is a tumour-suppressor protein that influences many cellular pathways but is best characterised by its function in the oxygen-sensing path.[26] Germline mutations of the VHL gene predispose affected individuals to the development of benign and malignant tumours in the CNS, and visceral organs such as the kidneys, pancreas, adrenals and reproductive organs.[26] The most common VHL-associated tumours are hemangioblastomas (HBs) involving the brain, spinal cord and retina; clear cell RCC; pheochromocytomas and paragangliomas; and pancreatic neuroendocrine tumors [Figures 22]. Other findings include ELSTs and papillary cystadenomas of the epididymis and broad ligament.[26]
Figure 22: 40-year-old male, who is a known case of Von Hippel Lindau syndrome. Axial STIR MR image shows a hyperintense lesion in the uncinate process of the pancreas

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HB is the most common CNS tumour associated with VHL, with the cerebellum being the most common site. Cerebellar HBs have been classified into four subtypes:[27],[28] type 1 (5%) – simple cyst without a macroscopic nodule; Type 2 (60%) – cyst associated with a mural nodule; Type 3 (26%) – solid tumour and Type 4 (9%) – solid tumour with small internal cysts.[27],[28] Computed tomographic (CT) images show a well-defined homogeneous cyst with an isoattenuating mural nodule on non-enhanced images.[28] Contrast-enhanced CT images show an avidly enhancing mural nodule within the cyst (the so-called cyst with mural nodule appearance). On MR, the cystic component is T1 hypointense and T2 hyperintense, and the mural nodule is T1 hypointense and T2 isointense or hyperintense. Mural nodule may show flow voids on T2WI and avid enhancement on post-contrast images.

RCC occurs in 28%–45% of patients with von Hippel–Lindau disease[29] and is a common cause of morbidity and mortality. In Von Hippel–Lindau disease, RCC often shows multicentricity and bilaterality. RCC could present as solid hypovascular renal masses or as complex cystic masses with mural nodules and thick septa[30] [Figure 23] and [Figure 24].
Figure 23: A 45 years old male, who is a known case of VHL syndrome. Post- contrast T1W coronal MR image shows enhancing lesion in the right kidney - Renal cell carcinoma

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Figure 24: A 40 years old male, known case of VHL syndrome. Coronal STIR MR image shows multiple fluid signal cystic (thick arrow) as well as complex solid lesions (thin arrows) in both the kidneys

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Complex as well as simple renal cysts are found in 50%–75% of patients with Von Hippel–Lindau disease[31] [Figure 24]. Ultrasound can be used as an initial imaging modality. On CT and MRI, the simple cysts show homogeneous fluid contents, without any internal architecture or any kind of enhancement. Complex cysts with internal enhancing septae or mural nodules need to be followed up as they can be a precursor of RCC.[30]

Adrenal and extra-adrenal pheochromocytomas are associated with VHL. On CT, pheochromocytoma typically appears as a solid or complex cystic mass with some areas of necrosis and haemorrhage, possible calcifications.[32] On MRI, pheochromocytoma appears as iso- or hypointense to the liver on T1-weighted and hyperintense on T2-weighted images in 95%–100% of cases[32] [Figure 25]. Pheochromocytomas show marked post-contrast arterial enhancement on CT and MRI due to significant vascularity. Scanning with metaiodobenzylguanidine shows high uptake in 75%–95% of cases.
Figure 25: A 45 years old male, a known case of VHL. Post-contrast T1W MR image shows enhancing lesions in bilateral adrenal glands –Pheochromocytomas

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  Conclusion Top

Phakomatosis are a heterogeneous group of diseases with a broad spectrum of lesions and involvement of multiple systems. Hence, familiarity with systemic manifestations of common neurocutaneous syndromes such as NF1, NF2, tuberous sclerosis, SWS and VHL syndrome is necessary.

Radiological examinations are useful in early identification of lesions and for monitoring disease progression.

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Conflicts of interest

There are no conflicts of interest.

  References Top

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14], [Figure 15], [Figure 16], [Figure 17], [Figure 18], [Figure 19], [Figure 20], [Figure 21], [Figure 22], [Figure 23], [Figure 24], [Figure 25]


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