Progressive dysphagia, dysarthria, dystonia, and tremor
BMJ 2010; 340 doi: https://doi.org/10.1136/bmj.c1213 (Published 18 March 2010) Cite this as: BMJ 2010;340:c1213
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Dear Sir,
I read with interest the Endgames case authored by Davendralingam et
al (BMJ 2010; 340:c1213), which describes the clinical and
neuroradiological features of Wilson's disease.
I would respectfully suggest that Pantothenate Kinase Associated
Neurodegeneration (PKAN) and aceruloplasminemia (aCp) should not be in the
neurogenetic differential diagnosis in this case. PKAN and aCp are
recessive neurodegenerative disorders with brain iron accumulation (1,2).
Their magnetic resonance imaging (MRI) features are diagnostic. In PKAN
there is the "eye-of-the-tiger" sign (an area of hyperintensity within a
hypointense globus pallidus) while in aCp there is diffuse hypo-intensity
of the basal ganglia nuclei on T2 sequences (1). The imaging features of
PKAN and aCp are thus distinct from Wilson's disease and can help select
appropriate molecular genetic tests.
In PKAN there is a pure neurological phenotype whilst in aCp almost
all cases have insulin diabetes mellitus. Biochemical tests are not useful
in diagnosing PKAN, whilst absent serum caeruloplasmin is present in aCp.
There are reports of successfull treatment of aCp with iron chelation
therapy.
Yours sincerely,
Dr Alisdair McNeill MRCP (UK)
References
1. McNeill A, Birchall D, Hayflick SJ et al. T2* and FSE MRI
distinguishes 4 subtypes of neurodegeneration with brain iron
accumulation. Neurology 2008; 70: 1614 - 1619.
2. McNeill A, Pandolfo M, Kuhn J, Shang H, Myajima H. The
Neurological Presentation of Ceruloplasmin Gene Mutations. Eur Neurol
2008; 60: 200 - 205.
Competing interests:
None declared
Competing interests: No competing interests
Why so long?
Why on earth was a (presumably) previously health 25yo woman allowed
to
degenerate to the point of being wheelchair-bound, mute, and drooling
without apparently having been seen by a single physician who would not
rest
until a diagnosis has been made?
Not wishing to cast aspersions, but there is something very wrong
here. Was
she a refugee from a country without even a semblance of adequate health
care, or was her family so passive as to just accept this awful decline?
The
diagnosis and treatment of the setting and system she was living and being
diagnosed in is more of a challenge that the diagnosis of the patient!
Competing interests:
None declared
Competing interests: No competing interests