Widespread hamartomas—brain, eyes, skin, kidneys, liver, heart, and lungs.

Clinical triad described by Vogt:

EPI-LOI-A

Epilepsy

Low intelligence

Adenoma sebaceum [Figs. 6D(i).4A to C].

STURGE–WEBER SYNDROME [FIG. 6D(I).5]

Results from anomalous development of the primordial vascular bed in the early stages of

cerebral vascularization.

As a result, brain becomes atrophic and calcified, particularly in the molecular layer of the cortex.

Clinical Manifestations

Facial capillary malformation—Port-wine stain

Unilateral facial nevus

Buphthalmos and glaucoma of the ipsilateral eye

Seizures in the 1st year of life in most patients.

Skull Radiograph

Serpentine or railroad track intracranial calcification in the occipitoparietal region.

Table 6D(i).1: Diagnostic criteria for tuberous sclerosis complex (TSC).

Major features Minor features

Facial angiofibromas or forehead plaque

Nontraumatic ungual or periungual fibroma (Koenen’s tumour)

Shagreen patch (connective tissue nevus) (Fig. 6D(i).4A)

Hypomelanotic macules (more than three) (Fig. 6D(i).4B)

Multiple retinal nodular hamartomas

Cortical tuber

Subependymal nodule

Subependymal giant cell astrocytoma

Cardiac rhabdomyoma, single or multiple

Lymphangiomyomatosis

Renal angiomyolipoma

Multiple randomly distributed pits in dental enamel

Hamartomatous rectal polyps

Bone cysts

Cerebral white matter migration lines

Gingival fibromas

Non-renal hamartoma

Retinal achronic patch

“Confetti” skin lesions

Multiple renal cysts

Definite TSC: Either two major features or one major feature with two minor features

Probable TSC: One major feature and one minor feature

Possible TSC: Either one major feature or two or more minor features

Figs. 6D(i).4A to C: (A) Shagreen patch; (B) Ash leaf-shaped macule is a hypopigmented macule

oval at one end and pointed at the opposite end; (C) Adenoma sebaceum.

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Fig. 6D(i).5: Sturge–weber syndrome.

VON HIPPEL–LINDAU DISEASE

Autosomal dominant trait

von Hippel-Lindau (VHL) tumor suppressor gene located on 3p25-26.

Clinical Features

Cerebellar hemangioblastoma

Retinal angioma

Cystic lesions of the kidneys, pancreas, liver, and epididymis

Pheochromocytoma.

PHACE SYNDROME

Posterior fossa malformation

Hemangiomas ipsilateral to the aortic arch

Arterial anomalies

Coarctation of the aorta, aplasia or hypoplasia of carotid arteries, aneurysmal carotid dilatation,

aberrant left subclavian artery

Eye abnormalities—glaucoma, cataracts, microphthalmia, and optic nerve hypoplasia.

ATAXIA TELANGIECTASIA

Autosomal recessive

Chromosome 11

Cerebellar atrophy

Telangiectasia appears on bulbar conjunctiva and skin

Sinopulmonary infections

Lymphoreticular malignancies

Immune deficiency.

NERVE THICKENING

Detecting enlargement of accessible nerves is very helpful in assessing patients with peripheral

nerve disorders, as only a few types of neuropathy lead to nerve thickening. Clinical landmarks and

sites of palpable nerves are given in Table 6D(i).2 and Figure 6D(i).6.

Table 6D(i).2: Clinical landmarks of palpable nerves.

Nerve Anatomical site Palpated against

Supraorbital [Fig. 6D(i).7] Forehead Orbital ridge of frontal bone

Infraorbital Cheek Zygomatic bone

Greater auricular [Figs.

6D(i).8 and 6D(i).9]

Neck, anterior branch across the sternocleidomastoid,

posterior branch over the sternocleidomastoid

Sternocleidomastoid

Ulnar [Fig. 6D(i).10] Elbow joint Behind medial epicondyle in

olecranon groove

Superficial radial Above wrist joint Against lateral border of

radius

Median Near wrist joint, proximal to the flexor retinaculum Against carpal bones

Common peroneal [Fig.

6.D(i).11]

Knee joint Against fibular head

Posterior tibial Ankle joint, below and behind medial malleolus Against calcaneus

Sural Lateral side of lower third of leg Fibula

Fig. 6D(i).6: Sites of palpable nerves.

Fig. 6D(i).7: Supraorbital nerve. Fig. 6D(i).8: Greater auricular nerve.

Fig. 6D(i).9: Greater auricular nerve of neck. Fig. 6D(i).10: Ulnar nerve.

Fig. 6D(i).11: Common peroneal nerve.

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Causes of Nerve Thickening

Infective

Leprosy

Hereditary

Hereditary motor and sensory neuropathy types 1 and 3 (Charcot–Marie–Tooth neuropathy,

Dejerine–Sottas syndrome)

Refsum’s disease.

Acquired immune mediated

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)

Chronic inflammatory sensory polyradiculopathy (CISP)

Multifocal acquired demyelinating sensory and motor polyneuropathy (MADSAM)

Relapsing Guillian-Barre syndrome (GBS).

Tumors of nerves or nerve sheath

Localized hypertrophic neuropathy

Schwannoma

Neurofibromatosis 1 and 2.

Nerve infiltrations

Neurolymphomatosis

Acromegaly

Amyloidosis

Sarcoidosis.

NOTES

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D(ii). HIGHER MENTAL FUNCTIONS

NERVOUS SYSTEM EXAMINATION

Handedness

Handedness

Right handed (90–95%) Left handed (5–10%)

99% have—left dominant hemisphere

1% have—right dominant hemisphere

60–70% have—left dominant hemisphere

15–20% have—right dominant hemisphere

15–20% have—mixed dominance

Examination

Any of the following methods can be adopted:

Ask the patient to kick a football, normally the dominant side leg is used.

Ask the patient to peep through a keyhole, normally the dominant side eye is used.

Ask the patient to fold the arms in front one over the other, the dominant hand is the one which

lies anteriorly.

Ask the patient to “stand at ease” position, the dominant hand is the one which lies posteriorly.

Clinical Implications

Handedness is important for rehabilitation of the patient (right-handed individuals—dominant left

hemisphere needs to be aggressively rehabilitated so as to have minimal residual deficit).

Degenerative diseases like Huntington’s disease have been postulated to be more common in

individuals with right dominant cortex.

Failure to develop clear hemispheric dominance has been implicated in dyslexia, stuttering, mirror writing, learning disability, and general clumsiness.

Education

Formal education up to standard ______.

It is important for testing components of higher mental functions like calculation, reading, and

writing.

CONSCIOUSNESS

The ascending reticular activating system (RAS) arising from the reticular formation of the

brainstem, primarily the paramedian tegmentum of the upper pons and midbrain, and projects to the

paramedian, parafascicular, centromedian, and intralaminar nuclei of the thalamus. This is the

primary control of consciousness.

The hypothalamus is also important for consciousness; arousal can be produced by stimulation

of the posterior hypothalamic region.

Coma It is a state of complete loss of consciousness from which the patient cannot be aroused by

ordinary stimuli.

There is complete unresponsiveness to self and the environment.

The patient in coma has no awareness of themselves, makes no voluntary movements, and has

no sleep-wake cycles.

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