Editing Primary familial brain calcification (section)

==Diagnosis==

In addition to the usual routine haematologic and biochemical investigations, the serum [[calcium]], [[phosphorus]], [[magnesium]], [[alkaline phosphatase]], [[calcitonin]] and [[parathyroid hormone]] should also be measured. The [[cerebrospinal fluid]] (CSF) should be examined to exclude [[bacteria]], [[virus]]es and [[parasite]]s.<ref name=Morita1998>{{cite journal  |vauthors=Morita M, Tsuge I, Matsuoka H, etal |title=Calcification in the basal ganglia with chronic active Epstein-Barr virus infection |journal=Neurology |volume=50 |issue=5 |pages=1485–8 |date=May 1998 |pmid=9596016 |doi=10.1212/wnl.50.5.1485|s2cid=7376355 }}</ref> The Ellsworth Howard test (a 10–20 fold increase of urinary cyclic [[Adenosine monophosphate|AMP]] excretion following stimulation with 200 micromoles of parathyroid hormone) may be worth doing also.{{citation needed|date=March 2014}} Serology for [[toxoplasmosis]] is also indicated.

Brain CT scan is the preferred method of localizing and assessing the extent of cerebral calcifications.{{citation needed|date=December 2020}}

Elevated levels of [[copper]], [[iron]], magnesium and [[zinc]] but not calcium have been reported in the CSF but the significance of this finding—if any—is not known.<ref name=Hozumi2011>{{cite journal  |vauthors=Hozumi I, Kohmura A, Kimura A, etal |title=High Levels of Copper, Zinc, Iron and Magnesium, but not Calcium, in the Cerebrospinal Fluid of Patients with Fahr's Disease |journal=Case Rep Neurol |volume=2 |issue=2 |pages=46–51 |year=2010 |pmid=20671856 |pmc=2905580 |doi=10.1159/000313920 }}</ref>

The diagnosis requires the following criteria be met:{{citation needed|date=December 2020}}
# the presence of bilateral calcification of the basal ganglia
# the presence of progressive neurologic dysfunction
# the absence of an alternative metabolic, infectious, toxic or traumatic cause
# a family history consistent with autosomal dominant inheritance

The calcification is usually identified on CT scan but may be visible on plain films of the skull.{{citation needed|date=December 2020}}

===Differential diagnosis===

Basal ganglia calcification may occur as a consequence of several other known genetic conditions and these have to be excluded before a diagnosis can be made.<ref name=Niwa2008>{{cite journal |vauthors=Niwa A, Naito Y, Kuzuhara S |title=Severe cerebral calcification in a case of LEOPARD syndrome |journal=Intern. Med. |volume=47 |issue=21 |pages=1925–9 |year=2008 |pmid=18981639 |doi=10.2169/internalmedicine.47.1365|doi-access=free }}</ref><ref name=Preusser2007>{{cite journal |vauthors=Preusser M, Kitzwoegerer M, Budka H, Brugger S |title=Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism |journal=Neuropathology |volume=27 |issue=5 |pages=453–6 |date=October 2007 |pmid=18018479 |doi=10.1111/j.1440-1789.2007.00790.x|s2cid=34345069 }}</ref><ref name=Saito2005>{{cite journal |vauthors=Saito Y, Shibuya M, Hayashi M, etal |title=Cerebellopontine calcification: a new entity of idiopathic intracranial calcification? |journal=Acta Neuropathol. |volume=110 |issue=1 |pages=77–83 |date=July 2005 |pmid=15959794 |doi=10.1007/s00401-005-1011-y |s2cid=2726661 |url=http://link.springer.de/link/service/journals/00401/bibs/5110001/51100077.htm |archive-url=https://archive.today/20130212042907/http://link.springer.de/link/service/journals/00401/bibs/5110001/51100077.htm |url-status=dead |archive-date=2013-02-12 |url-access=subscription }}</ref><ref name=Tojyo2001>{{cite journal |vauthors=Tojyo K, Hattori T, Sekijima Y, Yoshida K, Ikeda S |title=[A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis] |language=ja |journal=Rinsho Shinkeigaku |volume=41 |issue=6 |pages=299–305 |date=June 2001 |pmid=11771159 }}</ref>