Neurofibromatosis Type

Table 23

Diagnostic Criteria for Neurofibromatosis Type 2

1987 National Institute of Health criteria

A. Bilateral vestibular schwannomas.

B. First-degree family relative with neurofibromatosis type 2 (NF2) and unilateral vestibular schwannoma or any two of the following: meningioma, schwannoma, glioma, neurofibroma, or juvenile posterior subcap-sular lenticular opacity.

1991 National Institute of Health criteria

A. Bilateral vestibular schwannomas.

B. First-degree family relative with NF2 and unilateral vestibular schwannoma or any one of the following: meningioma, schwannoma, glioma, neurofibroma, or juvenile posterior subcapsular lens opacity.

Manchester criteriaa

A. Bilateral vestibular schwannomas.

B. First-degree family relative with NF2 and unilateral vestibular schwannoma or any two of the following: meningioma, schwannoma, glioma, neurofibroma, or posterior subcapsular lenticular opacities.

C. Unilateral vestibular schwannoma and any two of the following: meningioma, schwannoma, glioma, neurofibroma, or posterior subcapsular lenticular opacities.

D. Multiple meningiomas (two or more) and unilateral vestibular schwannoma or any two of the following: schwannoma, glioma, neurofibroma, or cataract.

National Neurofibromatosis Foundation criteria

A. Confirmed or definite NF2

1. Bilateral vestibular schwannomas.

2. First-degree family relative with NF2 and unilateral vestibular schwannoma at less than 30 years of age or any two of the following: meningioma, schwannoma, glioma, or juvenile lens opacity (posterior subcapsular cataract or cortical cataract).

B. Presumptive or probable NF2

1. Unilateral vestibular schwannoma at less than 30 years of age and at least one of the following: menin-gioma, schwannoma, glioma, or juvenile lens opacity (posterior subcapsular cataract or cortical cataract).

2. Multiple meningiomas (two or more) and unilateral vestibular schwannoma at less than 30 years of age or at least one of the following: schwannoma, glioma, or juvenile lens opacity (posterior subcap-sular cataract or cortical cataract).

"In the Manchester criteria, "any two of' refers to two individual tumors or cataract, whereas in the other sets of criteria, it refers to two tumor types or cataract.

(Adapted with permission from Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DGR. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 2002;59:1759-1765.)

Table 24

Diagnostic Criteria for PEHO Syndrome

Clinical criteria

1. Infantile—usually neonatal—hypotonia.

2. Convulsions, seizure onset at 2-52 weeks of life, myoclonic jerking and infantile spasms, and/or hypsar-rhythmia.

3. Early arrest of mental development, absence of motor milestones (no head support or ability to sit unsupported), no speech, and later, profound psychomotor retardation.

4. Poor or absent visual fixation from the first months of life with atrophy of the optic disks by 2 years of age, normal electroretinogram, extinguished visual evoked potentials.

5. Progressive brain atrophy, as shown by computed tomography or magnetic resonance imaging, particularly of the cerebellum and brain stem; milder supratentorial atrophy.

Additional features present in most patients

1. Subcutaneous peripheral and facial edema.

2. Microcephaly developing at 12 months.

3. Dysmorphic features (narrow forehead, epicanthal folds, short nose, open mouth, small chin, midfacial hypoplasia, protruding lower parts of auricles, and tapering fingers).

Reprinted with permission from Riikonen R. The PEHO syndrome. Brain Dev 2001;23:765-769, and from Elsevier.)

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