Paediatric movement disorders? Flashcards
How does benign myoclonus of infancy present?
“Clusters of head drops with flexor spasms of the trunk occuring around meal time in an otherwise healthy
7-month-old with a normal EEG suggest benign myoclonus of infancy.
normal EEG
What is benign paroxysmal torticollis?
“Benign paroxysmal torticollis is classed as a migraine equivalent by the International Headache Society. Some children go on to develop basilar-type migraines.
What is sandifer syndrome
Sandifer syndrome is posturing from esophageal discomfort and usually involves the trunk.
What is spasmus nutans?
Spasmus nutans has ocular oscillations along with head tilt,
What is dopa responsive dystonia?
dopa-responsive dystonia usually begins after 5 years of age, typically in the foot.”
What is opsoclonus-myoclonus syndrome?
“Opsoclonus-myoclonus syndrome features chaotic random eye movements with myoclonic jerks and is an autoimmune-mediated disorder. A significant number will also present with ataxia, dysarthris, behavioural changes and truncal hypotonia.
It occurs in the setting of B cell expansion within the CSF - the etiology is most often paraneoplastic. Most will have a neuroblastoma but some patients will have no identifiable etiology.”
Opsoclonus-myoclonus syndrome is a presumed autoimmune-mediated syndrome characterized by acute or subacute onset of abnormal eye movements, myoclonic jerks, ataxia, dysarthria, and behavioral changes in the setting of B-cell expansion within the cerebrospinal fluid. The etiology is most often paraneoplastic, especially neuroblastoma in children and oat cell, squamous cell, or adenocarcinoma in adults, but the etiology may also be parainfectious. After treatment for the underlying etiology, if known, medical management of neurologic symptoms usually involves immunomodulation. The long-term prognosis for many children includes some persistence of behavioral or cognitive difficulties. The authors review literature on atypical sensory behaviors in children.
Key points
- Opsoclonus-myoclonus syndrome is a presumed autoimmune-mediated syndrome characterized by acute or subacute onset of abnormal eye movements, myoclonic jerks, ataxia, dysarthria, and behavioral changes in the setting of B-cell expansion within the cerebrospinal fluid.
- The etiology is most often paraneoplastic, especially neuroblastoma in children and oat cell, squamous cell, or adenocarcinoma in adults, but the etiology may also be parainfectious.
- After surgical or medical management of the underlying etiology, if known, medical management of neurologic symptoms usually involves immunomodulation, most commonly involving ACTH, corticosteroids, or IVIg, but with an emerging use of rituximab, a monoclonal anti-B-cell antibody.
- The long-term prognosis for many children includes some persistence of behavioral or cognitive difficulties.
How does GTP cyclohydrolase deficiency present?
The autosomal dominantly inherited form of GTP cyclohydrolase deficiency (dopa-responsive dystonia) classically presents as a dystonic gait disorder with diurnal variation of symptoms. The mean age of onset of symptoms is 5 years to 6 years. The first symptom is usually postural dystonia of 1 leg, with progression to all limbs, followed by action dystonia and hand tremor within the next 10 to 15 years, during which time cognition remains intact. Occasionally, in older children, the first signs may start in the arms or be torticollism or writer’s cramp (focal dystonia). The spectrum of clinical manifestations is, however, broad and may include a total absence of symptoms, minor muscle cramps, infantile or adult onset, an early nonprogressive course, delayed attainment of motor milestones, spastic diplegia, and the occurrence of parkinsonian-like features in later life (Nygaard 1993). A patient has also been described in whom the first symptom was an adult-onset oromandibular dystonia (Steinberger et al 1999); in others, presentation was an apparent primary torsion dystonia that was responsive to anticholinergic agents (Jarman et al 1997) or with a myoclonus-dystonia syndrome (Leuzzi et al 2002). Penetrance is reduced, with the frequency of symptoms being 3-fold to 4-fold higher in females, as compared to males (Nygaard 1993).
What are some combined dystonias?
Combined dystonias are those in which dystonia is combined with other movement disorders, such as parkinsonism or myoclonus. These are sometimes accompanied by pyramidal tract involvement, and/or nonmotor features, including cognitive decline. Many are inherited.
Examples:
1. Dopa-responsive dystonia (DRD), which manifests in most cases as a generalized dystonia with onset in early childhood. The most frequent form of DRD is autosomal dominant DYT-GCH1 dystonia with a mutation in the GCH1 gene.
2. Other forms of dystonia + parkinsonism: Wilson disease, monogenic forms of early-onset parkinsonism (Parkin-, PINK1-, and DJ-1-associated parkinsonism),
X-linked dystonia-parkinsonism (DYT-TAF1), rapid-onset dystonia-parkinsonism (DYT-ATP1A3),
neurodegeneration with brain iron accumulation
3. Myoclonus-dystonia (DYT-SGCE), an autosomal dominant movement disorder characterized by alcohol-sensitive myoclonic jerks, primarily affecting the arms and axial muscles, combined with variable features of dystonia (see ‘Myoclonus-dystonia’ above)
4. Paroxysmal dyskinesia with dystonia, which includes several rare genetic forms characterized by episodes of spontaneous or induced dyskinesia with dystonia (DYT-MR1, DYT-PRRT2, and DYT-SLC2A1) (see ‘Paroxysmal dyskinesia with dystonia’ above)
Niemman- Pick Disease type C - how does it present?
Niemann-Pick disease type C is characterized by autosomal recessive inheritance with gradual and progressive neurological deterioration. Patients have variable hepatosplenomegaly, and progressive neurodegeneration. Findings include vertical supranuclear (usually downgaze) palsy, ataxia, dystonia, seizures, gelastic cataplexy and dementia.
Ataxia- telangiectasia - how does it present?
Ataxia-telangiectasia is an autosomal recessive disorder characterized by ataxia, oculocutaneous telangiectasias, and immunoincompetence. Choreoathetoid movements are seen even at an early age.
What is PANK 2 disease?
pantothenate kinase-associated neurologic disorder, associated with mutations in PANK 2.
The disorder, formerly called Hallervorden-Spatz syndrome,
Frataxin is associated with Friedreich ataxia, superoxide dismutase (SOD) with familial ALS, pyruvate dehydrogenase (PDH) with a syndrome of lactic acidosis, seizures and neurologic deterioration, and ATM (ataxia telangiectasia, mutated) with ataxia telangiectasia.
What are the following mutations associated with?
Frataxin, SOD, PDH, ATM?
Frataxin is associated with Friedreich ataxia
SOD (superoxide dismutase) with familial ALS, PDH (pyruvate dehydrogenase) with a syndrome of lactic acidosis, seizures, and neurologic deterioration
ATM (ataxia telangiectasia, mutated) with ataxia telangiectasia
Opsoclonus, myoclonus ataxia syndrome - what is it caused by? What is a common misdiagnosis?
“The child’s presentation (opsoclonus, myoclonus, ataxia syndrome, alternatively called ““OMS””, ““dancing eyes syndrome”” or Kinsbourne syndrome) is most often a paraneoplastic manifestation of occult neuroblastoma in this age group.
The most common initial misdiagnosis is acute cerebellar ataxia of childhood, a benign condition. The most helpful test in determining etiology of suspected OMS is CT of the chest, abdomen, and pelvis using oral contrast and fine cut images.”
How does dopa responsive dystonia present in childhood?
Dopa-responsive dystonia (DRD) presents in childhood as a progressive dystonia in children without a history of cerebral palsy or cognitive delay. It typically starts in a foot and progresses to become generalized; the most common inheritance pattern is autosomal dominant. The disease is unique for its robust and sustained response to low doses of levodopa. Its most notable characteristic is a diurnal variation, with symptoms usually more severe towards the end of the day and improved in the morning.
