Neurology
Section 5: Neurology
5.2 UNCOMMON CONDITIONS BUT NOT RARE
Figures 5.2.1A and B: Anencephaly Photo Courtesy: Anandakesavan, Thrissur
(Fig. 5.2.1A) Anencephaly: The cerebral hemisphere, cerebellum.
Pituitary gland is hypoplastic and the spinal cord pyramidal tracts are missing.Anomalies like defect of ear, cleft palate and congenital heart disease often associated.
(Fig. 5.2.1B) Transillumination of meningocele, showing that there is no brain tissue inside.
Prevention: Couples who had an anencephalic infant should have successive pregnancies monitored including amniocentesis, AFP level measurement and serial USG.
Dandy-Walker Syndrome
Figures 5.2.2A and B: Large head Dandy- Walker syndrome
Photo Courtesy: Anandakesavan, Thrissur
Large Head with A. Prominent occiput B. CT scan showing cerebellar hypoplasia and cyst in posterior fossa. Shape of the head may give clue to the diagnosis as in this case. Other examples are square or box-shaped head (subdural hygroma), frontal prominence (aqueductal stenosis) and uniform enlargement Chiari malformation with, communicating type hydrocephalus.
Shunting (Ventriculo-peritoneal or cystoperitoneal) for hydrocephalus, physical therapy, speech therapy or specialized education for those with associated handicaps.
Facioscapulohumeral Muscular Dystrophy-1
Figure 5.2.3: Facioscapulohumeral muscular Dystrophy
Photo Courtesy: PAM Kunju, Trivandrum
The typical appearance of the shoulders, the downward-sloping clavicles, and the bulge in the region of the trapezius muscle, due to the scapula being displaced upward.
Facial weakness shown by pouting mouth—“boucbe de tapir” The biceps and triceps are weak and forearm muscles are less involved (leading to a ‘Popeye’ appearance).
Supportive; Regular physiotherapy.
Scapular stabilization, forearm orthosis or ball-bearing feeder device to be useful.
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Glutaric Acidemia Type I
Figure 5.2.5: Glutaric acidemia type I Photo Courtesy: PAM Kunju, Trivandrum
Deficiency of glutaryl–coenzyme A dehydrogenase; Infant with megalencephaly, an acute encephalopathy regression of development, and progressive choreoathetosis. Cerebral palsy is a misdiagnosis; acidosis, urinary glutaric, 3-hydroxyglutaric, 3-hydroxybutyric, and acetoacetic acids are detectable.
Oral carnitine, Riboflavin supplementation GCDH gene mutation (Chr 19p13.2) can be detected antenatally.
Facioscapulohumeral Muscular Dystrophy-2
Figure 5.2.4: Facioscapulohumeral muscular dystrophy
Photo Courtesy: PAM Kunju, Trivandrum
Same patient as in Figure 5.2.3, the typical appearance of the shoulders and the bulge in the region of the trapezius muscle, due to the scapula being displaced upward. The biceps and triceps are weak and forearm muscles are less involved (leading to a ‘Popeye’ appearance)
Supportive; Scapular stabilization, forearm orthosis or ball-bearing feeder device to be useful.
Glutaric Acidemia Type I—MRI
Figure 5.2.6: Glutaric acidemia type I Photo Courtesy: PAM Kunju, Trivandrum
Cerebral atrophy, most marked in the frontal and temporal lobes.
wide sylvian fissure (yellow arrow), decreased signalintensity of lentiform nucleus, bifrontal subdutral hematoma (green arrow).
• Low protein diet (restrict tryptophan and lysine) Oral carnitine, Riboflavin supplementation.
• Intrauterine diagnosis by fetal sonography for dilated sylvian fissure in 3rd trimester or DNA analysis in end of 1st or 2nd trimester.
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Hallervorden-Spatz Disease
Figures 5.2.7A and B: Hallervorden—Spatz disease
Photo Courtesy: PAM Kunju, Trivendrum
Pantothenate kinase-associated neurodegeneration (PKAN)—
Progressive rigidity, first in the foot.
(Fig. 5.2.7A) Then in the hand with severe dystonia and spastic immobility
(Fig. 5.2.7B) Other features are choreoathetosis and dysarthria.
Death within 5 to 10 years. Caused due to iron deposition in brain. Now grouped under neurodegeneration with brain iron accumulation (NIBA).
Treatment for dystonia, baclofen pump, oral trihexyphenidyl, and deep brain stimulation.
Hallervorden-Spatz Disease—MRI
Figures 5.2.8A and B: ‘Eye of the tiger’ sign Photo Courtesy: PAM Kunju, Trivendrum
Coronal T2W MRI—‘Eye of the tiger’
sign:
MRI hyperintensity surrounded by hypointensity in the globus pallidus (GP).
Diagnosis: The MRI features + genetic study showing abnormal pank 2 gene; locus is 20p13.
• Differentiate from other T2 low signal GP–neuronal ceroid lipofuscinosis, fucosidosis and high signal GP—methyl malonic acidemia Kearn-Sayre syndrome and anoxic encephalopathy.
• Treatment: In PKAN, though iron deposition in GP, iron chelation ineffective. A potential for pantothenate replacement.
Stereotactic pallidotomy in severe cases.
Hemimegalencephaly—Linear Nevus Sebaceous Syndrome—MRI
Figure 5.2.9: Hemimegalencephaly MRI Photo Courtesy: PAM Kunju, Trivandrum
MRI shows abnormal gyration, ventriculomegaly, colpocephaly, an “occipital sign” (displacement of the occipital lobe across the midline), and increased volume and T signal of white matter, in addition to the overall increased size of the involved hemisphere.
Clinical features (Fig. 5.2.10)
• Look for Associations:
• NF 1
• Tuberous sclerosis
• Klippel-Trenaunay-Weber Proteus syndrome
• Hemihypomelanosis of Ito
• Epidermal nevus syndrome
• Seizure may require multiple anticonvulsants and if intractable surgical hemispherectomy.
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Hemimegalencephaly—Linear Nevus Sebaceous Syndrome
Figure 5.2.10: Linear nevus sebaceous syndrome
Photo Courtesy: PAM Kunju, Trivandrum
Linear sebaceous nevus (a hairless plaque on the right scalp and face, eye abnormalities, skeletal deformities and CHD
Hemimegalencephaly—MRI shows abnormal gyration, ventriculomegaly, colpocephaly, an “occipital sign” (displacement of the occipital lobe across the midline), and increased volume and T signal of white matter, in addition to the overall increased size of the involved hemisphere.
• Look for Associations:
• NF 1
• Tuberous sclerosis
• Klippel-Trenaunay-Weber Proteus syndrome
• Hemihypomelanosis of Ito
• Epidermal nevus syndrome
• Seizure may require multiple anticonvulsants and if intractable surgical hemispherectomy.
Heterotopia
Figure 5.2.11: Subcortical heterotopia Photo Courtesy: PAM Kunju, Trivandrum
Gray Matter Heterotopia: Clumps of grey matter being located in white matter area, caused by arrested migration of neurons to the cortex.
Divided into three: subcortical, subependymal, and band heterotopia (also called double cortex). MRI shows heterotopia as areas of gray matter intensity.
They may be identified anywhere in the white matter or protruding into the lateral ventricle from the immediate periventricular region.
Symptoms vary from normal to severe developmental delay, seizure or mental retardation.
Management is by antiepileptic drug. No surgery is indicated except corpus callosotomy if seizures are intractable.
Periventricular Nodular Heterotopia
Figure 5.2.12: Periventricular nodular heterotopia
Photo Courtesy: PAM Kunju, Trivandrum
Periventricular nodular heterotopia.
Axial T1W MR image shows confluent nodules of gray matter lining the walls of the lateral ventricles. Disorders of Neuronal Migration 1. Neuroblasts never having begun migration from the periventricular region produce periventricular nodular heterotopia, 2. Migration, arrested in the
subcortical white matter, produces subcortical laminar heterotopia and 3. Neuroblasts reached the cortical plate but lack correct layering, leads to abnormalities of gyration, such as lissencephaly or pachygyria.
Management is by antiepileptic drug. No surgery is indicated except corpus callosotomy.
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Schizencephaly
Figure 5.2.13: Schizencephaly Photo Courtesy: PAM Kunju, Trivandrum
This picture shows unilateral CSF–filled cleft extending from the ventricle to the periphery. A case of Schizencephaly it is a disorder of neuronal migration characterized by a CSF–filled cleft, which is lined by gray matter. The cleft extends, from the ventricle (ependyma) to the periphery (pia) of the brain.
The clefts may be unilateral or bilateral and may be closed (fused lips), or separated (open lips). In porencephaly, scar tissue and white matter are apparent, but in cleft, it is lined with brain tissue.
Presently, there is no cure, but the goal of treatment is to manage the symptoms.
Treatment may include:
• Anticonvulsants
• Surgical shunt in the brain to drain the fluid
• Surgical excision of the offending brain tissue that surrounds the cleft.
Hydranencephaly
Figures 5.2.14A and B: Hydranencephaly Photo Courtesy: PAM Kunju, Trivandrum
(Fig. 5.2.14A) Transillumination with typical facies.
(Fig. 5.2.14B) CT scan showing absent cerebral hemispheres (due to intrauterine occlusion of bilateral internal carotid arteries). Note the retained brainstem and cerebellum supplied by posterior circulation.
Ventriculoperitoneal shunt prevents massive enlargement of the
cranium. Seizures to be managed with AEDs.
Lissencephaly
Figure 5.2.15: Lissencephaly
Photo Courtesy: PAM Kunju, Trivandrum
Lissencephaly: Smooth brain caused by defective neuronal migration during the 12th to 24th weeks of gestation. ‘Agyria’ (no gyri) or
‘pachygyria’ (broad gyri), thick cortex, and transversely placed sylvian fissure gives Figure of 8 appearance.
Early stimulation and intervention with OT and PT. Intractable seizures may be controlled with ACTH and multiple medication.
If hydrocephalus shunting.
Frequent respiratory infection and systemic complications to be addressed. If feeding becomes difficult, a gastrostomy tube may be considered.
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Metachromatic Leukodystrophy (MLD)
Figure 5.2.16: Metachromatic leukodystrophy Photo Courtesy: PAM Kunju, Trivandrum
MLD-T2 W MRI showing Symmetric peri ventricular hyper intensity (demyelination) that spares the subcortical U fibers.
MLD presents as Late infantile, Juvenile (incoordination of gait, spasticity, incontinence, dysarthria and peripheral neuropathy), and adult MLD (memory and psychiatric disturbances).
Supportive, physio, antispastic drugs. Bone marrow transplantation and enzyme (arylsulfatase).
Replacement were tried.
Myopathic Facies
Figure 5.2.17: Myopathic facies Photo Courtesy: PAM Kunju, Trivandrum
Myopathic facies (ptosis, attenuated facial expression, open mouth, tired look) seen in congenital myopathies, congenital muscular dystrophies. Myotonic dystrophy, mitochondrial myopathies and facioscapular humeral muscular dystrophy. Diagnosed by CK, EMG, muscle biopsy and genetic analysis.
The goal is to prevent contracture and skeletal deformity and to keep the patient able to be ambulant as long as possible. Trial of carnitine.
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Wilson’s Disease—Neurologic
Figures 5.2.19A to C: Wilson’s disease Photo Courtesy: PAM Kunju, Trivandrum
(Fig. 5.2.19A) Wilson’s Disease;
sardonic smile, facial grimacing, and dystonia of upper limb.
(Fig. 5.2.19B) The Kaiser-Fleischer ring, a yellow-brown deposition of copper in the Descemet’s membrane of the cornea.
(Fig. 5.2.19C) MRI increased signal intensity on putamen and caudate nucleus of the basal ganglia.
Neurologic symptoms can be alterations in speech, drooling, and motor dysfunction, and mental changes. Tremor chorea, dystonia, and cerebellar impairment are the earliest manifestations. Other MRI findings—“face of the panda”, in the midbrain and“bright claustrum”
sign.
Diagnosis by serum ceruloplasmin (reduced), quantification of 24 hours urine copper (elevated, typically exceeds 100 mg/24 hours), slit-lamp examination for the Kayser-Fleischer ring and liver biopsy for histologic and copper content. Management. divided into acute (with Penicillamine) and lifelong maintenance therapy (with Trientine and Zinc). Ceruloplasmin oxidase activity and serum-free copper should be monitored to prevent iatrogenic copper deficiency.
Radial Nerve Palsy
Figure 5.2.18: Schwannoma from radial nerve with wristdrop
Photo Courtesy: PAM Kunju, Trivandrum
Schwannoma from radial nerve with wrist drop. Following
situations may result in wrist drop:
Stab wounds to the chest at or below the clavicle or birth injury damaging the posterior cord of brachial plexus; fracture humerus;
lead poisoning; prolonged use of crutches, injection injury, Schwannoma of radial nerve (very rare tumor).
Note these points:
1. Weakness of brachioradialis, wrist extension and finger flexion
= radial nerve lesion; 2. Weakness of finger extension and radial deviation of the wrist on extension
= posterior interossious nerve lesion; 3. Weakness of triceps, finger extensors and flexors = C7,8 lesion;
4. Generalized weakness of upper limb marked in deltoid, triceps, wrist extension and finger extension
= corticospinal lesion.
• Diagnosis: Nerve conduction velocity, Plain films can help identify bone spurs and fractures;
MRI in selected cases
• Management: Intracapsular tumor removal and nerve reconstruction. General management in nerve palsy—
Physio and cockup splint (a splint used to immobilize the wrist and leave the fingers free) will prevent long-term contracture.
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