CME INDIA Case Presentation by Dr. Vaibhav Mathur, MBBS, MD (Medicine) (Gold Medalist), DM (Neurology), SMS Medical College, Jaipur.
CME INDIA Case Study
- 31 yr. male, with h/o abnormal movements for last 5yrs, esp. difficulty eating as tongue movements force food outside mouth. There is history of past tongue injuries.
- One recent episode of seizure.
- A family history in elder sister was there, who died with fall from height due to seizure.
Investigations done:
- CBC was normal.
- Peripheral blood film showed acanthocytes.
- MRI showed caudate atrophy.
- Serum ferritin and iron normal.
- KF rings negative, LFT /RFT normal.
- Genetic testing unaffordable.
How Managed?
- Now we can only give symptomatic medications.
- Given Tetrabenazine and THP.
- Movements better.
- Feeding dystonia can be counselled for turning neck while eating to find a ‘null point” of least discomfort.
Findings in nutshell
- Intermittent orobuccolingual dyskinesias, cervical dystonia and right > left foot dystonia (aggravated by walking).
- Random, flowing limb movements easily identifiable as chorea.
- Stereotyped shoulder shrugging and repeated sniffing with some “urge” to do and transient voluntary suppression – suggestive of tics.
It’s a rough general rule that adult onset choreiform facial movements of forehead are s/o Huntington’s and those of lower face are drug induced, neuroacanthocytosis or NBIA and his gait can be called as the classic “Rubber Man gait” – excessive Truncal movements.
Differential Diagnosis
- Chorea acanthocytosis.
- Huntington’s Chorea.
- Wilson’s disease.
- NBIA (neuroferritinopathy).
A family history in elder sister was there, who died with fall from height due to seizure
(Ruling out X linked disorders of chorea – e.g. lesch nyhan, lubag disease, and Mcleod syndrome)
Provisional Diagnosis
- Chorea acanthocytosis
- Adult onset progressive Choreiform disorder.
- Associated orobuccolingual dyskinesia, lip and tongue biting esp. during feeding.
- peculiar rubber man gait in some cases.
- Associated Tics, dystonia and areflexic distal Amyotrophy possible.
- Parkinsonism, cognitive affection, temporal lobe seizures and psychiatric disturbances at later stages.
- VPS13A gene mutation.
PBF – acanthocytes in 5-50% cases.
CPK – modest elevation.
NCS – sensory affection.
MRI – caudate atrophy (HD like).
https://doi.org/10.1186/1750-1172-6-68
CME INDIA Discussion
Dr. Sanjay Kumar, DM (Neuro), Patna:
- Rule out Neuroacanthocytosis.
Dr. Anil Kumar, Neuropsychiatrist, Ranchi:
- Neuroacanthocytosis. Slide shows few acanthocytes(spur like).
Dr. Anand Malani, Physician, Sangil (Maharashtra):
- Neuroacanthocytosis, I have seen one case during my PG days
Dr. Vaibhav Mathur:
- Scenario fits Chorea acanthocytosis, which are visible in the pbf
- Feeding dystonia, lip and tongue biting are further supportive of the diagnosis
Dr. Ashok Kumar, DM Neuro, Ranchi:
- The First thing apparent in this patient is the Emaciated look. It can be due to poor intake, swallowing difficulty, some metabolic problem, chronic malabsorption/diarrhoea, prolonged infection etc.
- Then his dancing gait and choreiform movements including semi purposive manipulation of legs suggest Huntington disease (HD).
- Dysphagia is common in HD due to
- Difficulty in tongue protrusion and
- The patient looks in hurry and may take another morsel even before he has swallowed or chewed the previous bolus of food.
- Muscle wasting is apparent from winging of scapula.
- NEUROACANTHOCYTOSIS is extremely rare. In last 20 years, I have seen one case only. These patients have severe facial involvement in chorea with self-mutilation. They chew their lips. This is a feature not seen in HD. But it Extremely common in neuroacanthocytosis (NA). My single case had severe mutilated, blood-stained lips. It looks like HD though NA should be one of DD’s. A closer look at the face is desired.
- There are a few acanthocyte like cells. A few such cells are common. Often artifacts. Number of Acanthocytes should be significant — at least 3% — shown in repeated slides.
Dr. Vaibhav Mathur
- The patient had lip and tongue injuries and poor intake due to trouble orobuccolingual dyskinesias …
- Regarding the acanthocytes yield in pbf-The correct method is to use a WET, UNFIXED preparation of ISOTONICALLY diluted FRESH Blood sample, which we couldn’t do.(that would have been better)
- Points that we considered against HD were
- Minimal forehead chorea, predominant lower face
- Associated Dystonia, tics and seizure
- Young onset with AR family history (elder sister) – HD is AD
- Acanthocytes in PBF
Another pt of Neuroacanthocytosis, seen some time back, with the correct wet unfixed film showing acanthocytes-
- 45yr female with 3yr h/o involuntary intermittent facial movements in form of repetitive patterned Pursing and twisting of the lower > upper lips, Involuntary opening of the jaw with repetitive lateral (mainly right sided) movements, sometimes associated with raising of eyebrows, tensing of anterior neck muscles and lateral movements of the tongue aggravated on speaking and Eating …
- Clinical D/D –
- Primary adult onset oromandibular dystonia
- Tardive dyskinesia
- Neuroacanthocytosis
- Wilson’s
- NBIA
- Final diagnosis: Neuroacanthocytosis
CME INDIA Learning Points
- Synonyms of Neuroacanthocytosis – Levine-Critchley syndrome.
- Neuroacanthocytosis is a progressive autosomal recessive neurodegenerative disorder.
- Usual onset of neurological symptoms usually in the twenties.
- Often the initial presentation may be subtle cognitive or psychiatric symptoms.
- In some cases, seizures may precede the appearance of movement disorders by as much as a decade.
- Peculiar to this condition -“feeding dystonia” with tongue protrusion, orofacial dyskinesias, involuntary vocalizations, dysarthria and involuntary tongue- and lip-biting.
- The gait may have a “rubber man” appearance with truncal instability and sudden, violent trunk spasms.
- There could be limb dystonia.
- Seizures, typically generalized, are the first manifestation of disease in one third of cases.
- Most patients have elevated levels of creatine phosphokinase (CK).
- In contrast to MLS, myopathy and axonal neuropathy are usually mild.
- Clinical neuromuscular manifestations include areflexia, sensory-motor neuropathy, and variable weakness and atrophy.
- Muscle biopsy and electromyography commonly demonstrate neuropathic changes and rarely myopathic alterations.
- It usually slowly progresses over 15-30 years, but sudden death, presumably caused by seizures or autonomic involvement, may occur.
- The core neuroacanthocytosis syndromes mainly comprise of the two diseases, chorea-acanthocytosis and the McLeod syndrome. Huntington’s disease-like 2, and pantothenate kinase-associated neurodegeneration (PKAN) are very rare but these diseases can also be included in this group of syndromes.
Subdivisions of Neuroacanthocytosis
- Chorea-acanthocytosis (choreoacanthocytosis).
- Huntingon’s disease-like 2.
- McLeod syndrome.
- Pantothenate kinase-associated neurodegeneration (PKAN).
- Advances in molecular genetics have enabled us to distinguish between these diseases.
- Genetic counselling plays an important role in the management as well as appropriate evaluation and education for both the patient and involved family members.
CME INDIA Tail Piece
- Acanthocytes, or spur cells, are spiculated red cells with a few projections of varying size and surface distribution.
- It can be seen in a variety of clinical conditions:
- CGD with mcleod red cell phenotype.
- Neuroacanthocytosis.
- Malnutrition states.
- Infantile pyknocytosis.
- (Lu) null Lutheran phenotype.
- Hypothyroidism, myxedema.
- Zieve syndrome.
- Acanthocytes should be distinguished from echinocytes, or burr cells, that also demonstrate multiple small projections but these are uniformly distributed on the red cell surface.
References:
- Ichiba M, Nakamura M, Sano A. [Neuroacanthocytosis update]. Brain Nerve. 2008 Jun;60(6):635-41. Japanese. PMID: 18567359
- Feriante J, Gupta V. Neuroacanthocytosis. [Updated 2021 Jul 16]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560767/
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