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Diffuse white matter abnormalities

MedGen UID:
870477
Concept ID:
C4024923
Anatomical Abnormality
Synonym: White matter abnormalities, diffuse
 
HPO: HP:0007204

Conditions with this feature

Agenesis of the corpus callosum with peripheral neuropathy
MedGen UID:
162893
Concept ID:
C0795950
Disease or Syndrome
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.
CARASIL syndrome
MedGen UID:
325051
Concept ID:
C1838577
Disease or Syndrome
HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD.
Autosomal recessive osteopetrosis 5
MedGen UID:
409627
Concept ID:
C1968603
Disease or Syndrome
Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).
RIN2 syndrome
MedGen UID:
416526
Concept ID:
C2751321
Disease or Syndrome
A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11.
Megalencephalic leukoencephalopathy with subcortical cysts 2A
MedGen UID:
462705
Concept ID:
C3151355
Disease or Syndrome
The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in virtually all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to and usually several centimeters above the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Almost all individuals have epilepsy from an early age. The epilepsy is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Mental deterioration is late and mild. Disease severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their fifties. An improving phenotype has a similar initial presentation with delayed mental or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable, with or without autism. Epilepsy and status epilepticus may occur.
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
MedGen UID:
462706
Concept ID:
C3151356
Disease or Syndrome
The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in virtually all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to and usually several centimeters above the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Almost all individuals have epilepsy from an early age. The epilepsy is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Mental deterioration is late and mild. Disease severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their fifties. An improving phenotype has a similar initial presentation with delayed mental or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable, with or without autism. Epilepsy and status epilepticus may occur.
Leukodystrophy and acquired microcephaly with or without dystonia;
MedGen UID:
908888
Concept ID:
C4225213
Disease or Syndrome

Professional guidelines

PubMed

McNabb CB, McIlwain ME, Anderson VM, Kydd RR, Sundram F, Russell BR
Psychiatry Res Neuroimaging 2020 Nov 30;305:111198. Epub 2020 Oct 1 doi: 10.1016/j.pscychresns.2020.111198. PMID: 33035754
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Guzmán-De-Villoria JA, Ferreiro-Argüelles C, Fernández-García P
Semin Ultrasound CT MR 2010 Jun;31(3):260-74. doi: 10.1053/j.sult.2010.03.002. PMID: 20483393

Recent clinical studies

Etiology

Filip P, Svatkova A, Carpenter AF, Eberly LE, Nestrasil I, Nissi MJ, Michaeli S, Mangia S
Neuroimage Clin 2020;26:102234. Epub 2020 Mar 2 doi: 10.1016/j.nicl.2020.102234. PMID: 32272373Free PMC Article
He L, Parikh NA
Pediatr Neurol 2015 Oct;53(4):330-7. Epub 2015 Jun 15 doi: 10.1016/j.pediatrneurol.2015.05.001. PMID: 26216502
Tremblay S, Henry LC, Bedetti C, Larson-Dupuis C, Gagnon JF, Evans AC, Théoret H, Lassonde M, De Beaumont L
Brain 2014 Nov;137(Pt 11):2997-3011. Epub 2014 Sep 3 doi: 10.1093/brain/awu236. PMID: 25186429Free PMC Article
O'Sullivan M
Pract Neurol 2008 Feb;8(1):26-38. doi: 10.1136/jnnp.2007.139428. PMID: 18230707
Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P
AJNR Am J Neuroradiol 2008 Feb;29(2):301-5. Epub 2007 Nov 1 doi: 10.3174/ajnr.A0792. PMID: 17974614Free PMC Article

Diagnosis

Filip P, Svatkova A, Carpenter AF, Eberly LE, Nestrasil I, Nissi MJ, Michaeli S, Mangia S
Neuroimage Clin 2020;26:102234. Epub 2020 Mar 2 doi: 10.1016/j.nicl.2020.102234. PMID: 32272373Free PMC Article
Hinojosa-Rodríguez M, Harmony T, Carrillo-Prado C, Van Horn JD, Irimia A, Torgerson C, Jacokes Z
Neuroimage Clin 2017;16:355-368. Epub 2017 Aug 14 doi: 10.1016/j.nicl.2017.08.015. PMID: 28861337Free PMC Article
Wozniak JR, Mueller BA, Lim KO, Hemmy LS, Day JW
J Neurol Sci 2014 Jun 15;341(1-2):73-8. Epub 2014 Apr 13 doi: 10.1016/j.jns.2014.04.005. PMID: 24768314Free PMC Article
O'Sullivan M
Pract Neurol 2008 Feb;8(1):26-38. doi: 10.1136/jnnp.2007.139428. PMID: 18230707
Garel C
Pediatr Radiol 2006 Jul;36(7):621-5. Epub 2006 May 3 doi: 10.1007/s00247-006-0200-8. PMID: 16770666

Therapy

Prashanth LK, Taly AB, Sinha S, Ravishankar S, Arunodaya GR, Vasudev MK, Swamy HS
QJM 2005 Aug;98(8):557-63. Epub 2005 Jul 8 doi: 10.1093/qjmed/hci095. PMID: 16006499
Rovira A, Córdoba J, Raguer N, Alonso J
Curr Opin Neurol 2002 Dec;15(6):731-7. doi: 10.1097/01.wco.0000044771.39452.8d. PMID: 12447113
Blumenfeld H, Cha JH, Cudkowicz ME
Neurology 1996 Feb;46(2):556-8. doi: 10.1212/wnl.46.2.556. PMID: 8614533
McArthur JC, Kumar AJ, Johnson DW, Selnes OA, Becker JT, Herman C, Cohen BA, Saah A
J Acquir Immune Defic Syndr (1988) 1990;3(3):252-9. PMID: 2406415
Ellis WG, Sobel RA, Nielsen SL
J Infect Dis 1982 Aug;146(2):125-37. doi: 10.1093/infdis/146.2.125. PMID: 7108268

Prognosis

Touré ML, Sakadi F, Keita MM, Carlos Othon G, Diallo SM, Baldé TH, Kassa FD, Diallo B, Hinima M, Diallo MB, Aminou SY, Camara N, Kadji JM, Konaté M, Cissé FA, Cissé A
Eur J Med Res 2023 Oct 28;28(1):468. doi: 10.1186/s40001-023-01423-w. PMID: 37898796Free PMC Article
Huang L, Peng S, Li R, Xie D, Huang D
BMC Neurol 2020 Mar 2;20(1):73. doi: 10.1186/s12883-020-01661-z. PMID: 32122316Free PMC Article
Hinojosa-Rodríguez M, Harmony T, Carrillo-Prado C, Van Horn JD, Irimia A, Torgerson C, Jacokes Z
Neuroimage Clin 2017;16:355-368. Epub 2017 Aug 14 doi: 10.1016/j.nicl.2017.08.015. PMID: 28861337Free PMC Article
Choi S, Bush AM, Borzage MT, Joshi AA, Mack WJ, Coates TD, Leahy RM, Wood JC
Neuroimage Clin 2017;15:239-246. Epub 2017 Apr 29 doi: 10.1016/j.nicl.2017.04.023. PMID: 28540180Free PMC Article
Vishwas MS, Healy BC, Pienaar R, Gorman MP, Grant PE, Chitnis T
AJNR Am J Neuroradiol 2013 Feb;34(2):417-23. Epub 2012 Aug 2 doi: 10.3174/ajnr.A3216. PMID: 22859275Free PMC Article

Clinical prediction guides

Touré ML, Sakadi F, Keita MM, Carlos Othon G, Diallo SM, Baldé TH, Kassa FD, Diallo B, Hinima M, Diallo MB, Aminou SY, Camara N, Kadji JM, Konaté M, Cissé FA, Cissé A
Eur J Med Res 2023 Oct 28;28(1):468. doi: 10.1186/s40001-023-01423-w. PMID: 37898796Free PMC Article
Hinojosa-Rodríguez M, Harmony T, Carrillo-Prado C, Van Horn JD, Irimia A, Torgerson C, Jacokes Z
Neuroimage Clin 2017;16:355-368. Epub 2017 Aug 14 doi: 10.1016/j.nicl.2017.08.015. PMID: 28861337Free PMC Article
Choi S, Bush AM, Borzage MT, Joshi AA, Mack WJ, Coates TD, Leahy RM, Wood JC
Neuroimage Clin 2017;15:239-246. Epub 2017 Apr 29 doi: 10.1016/j.nicl.2017.04.023. PMID: 28540180Free PMC Article
He L, Parikh NA
Pediatr Neurol 2015 Oct;53(4):330-7. Epub 2015 Jun 15 doi: 10.1016/j.pediatrneurol.2015.05.001. PMID: 26216502
Vishwas MS, Healy BC, Pienaar R, Gorman MP, Grant PE, Chitnis T
AJNR Am J Neuroradiol 2013 Feb;34(2):417-23. Epub 2012 Aug 2 doi: 10.3174/ajnr.A3216. PMID: 22859275Free PMC Article

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