Klinische FragestellungVerkalkung, intrazerebrale; Differentialdiagnose

NGS +

Heterogene Gruppe von Erkrankungen: Intrakranielle Verkalkungen werden innerhalb des Hirnparenchyms oder -gefäßsystems beobachtet. Die Prävalenz reicht von 1% bei jungen Menschen bis zu 20% bei älteren Menschen. Allerdings wurden in Autopsiefällen bis zu 72% Hirnverkalkungen festgestellt, wobei mikroskopische Verkalkungen am häufigsten vorkommen. Die Computertomographie hat wesentlich zur genauen Erkennung, Lokalisierung und Klassifizierung von intrakraniellen Verkalkungen beigetragen.

• Alias: Basalganglien-Kalzifikation
• Alias: Calzifizierung, intrazerebrale
• Alias: Kalzifikation, intrazerebrale
• Alias: Kalzifikation, zerebrale
• Alias: Kalzifizierung, intrazerebrale
• Alias: Morbus Fahr
• Allelic: De Sanctis-Cacchione syndrome (ERCC6)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
• Allelic: Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
• Allelic: Kenny-Caffey syndrome, type 1 (TBCE)
• Allelic: Lung cancer, susceptibility to (ERCC6)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
• Allelic: Premature aging syndrome, Penttinen type (PDGFRB)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: Singleton-Merten syndrome 1 (IFIH1)
• Allelic: Spastic paraplegia 56, AR (CYP2U1)
• Allelic: Spondyloenchondrodysplasia with immune dysregulation (ACP5)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• Allelic: UV-sensitive syndrome 2 (ERCC8)
• ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Aicardi-Goutieres syndrome 3 (RNASEH2C)
• Aicardi-Goutieres syndrome 4 (RNASEH2A)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Basal ganglia calcification, idiopathic, 1 (SLC20A2)
• Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Basal ganglia calcification, idiopathic, 5 (PDGFB)
• Basal ganglia calcification, idiopathic, 6 (XPR1)
• Basal ganglia calcification, idiopathic, 7, AR (MYORG syn. KIAA1161)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
• Focal cortical dysplasia, type II, somatic (TSC1)
• Focal cortical dysplasia, type II, somatic (TSC2)
• HARP syndrome (PANK2)
• Hemorrhagic destruction of the brain, subependymal calcification + cataracts (JAM3)
• Hyperparathyroidism 4 (GCM2)
• Hyperparathyroidism, neonatal (CASR)
• Hypocalcemia, AD (CASR)
• Hypocalcemia, AD 2 (GNA11)
• Hypocalcemia, AD, with Bartter syndrome (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Hypocalciuric hypercalcemia, type II (GNA11)
• Hypoparathyroidism, familial isolated 1 (PTH)
• Hypoparathyroidism, familial isolated 2 (GCM2)
• Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
• Immunodeficiency 38 (ISG15)
• McCune-Albright syndrome, somatic, mosaic (GNAS)
• Mental retardation, XL syndromic 5 (AP1S2)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Osseous heteroplasia, progressive (GNAS)
• Panhypopituitarism, XL (SOX3)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
• Pseudo-TORCH syndrome 1 (OCLN)
• Pseudo-TORCH syndrome 2 (USP18)
• Pseudohypoparathyroidism Ia (GNAS)
• Pseudohypoparathyroidism Ib (GNAS)
• Pseudohypoparathyroidism Ic (GNAS)
• Pseudopseudohypoparathyroidism (GNAS)
• Rajab interstitial lung disease with brain calcifications 1 (FARSB)
• Rajab interstitial lung disease with brain calcifications 2 (FARSA)
• Seizures, early-onset, with neurodegeneration + brain calcification (NRROS)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)