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Encephalomalacia

MedGen UID:
4936
Concept ID:
C0014068
Disease or Syndrome
Synonyms: Cerebromalacia; Cerebromalacias; Encephalomalacias
SNOMED CT: Encephalomalacia (58762006)
 
HPO: HP:0040197
Monarch Initiative: MONDO:0006741

Definition

Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. [from HPO]

Conditions with this feature

Encephalomalacia, multilocular
MedGen UID:
341670
Concept ID:
C1856991
Disease or Syndrome
Proximal myopathy with extrapyramidal signs
MedGen UID:
816615
Concept ID:
C3810285
Disease or Syndrome
Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia (Wilton et al., 2020).
Tatton-Brown-Rahman overgrowth syndrome
MedGen UID:
862982
Concept ID:
C4014545
Disease or Syndrome
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference =2 SD above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors.
Immunodeficiency 91 and hyperinflammation
MedGen UID:
1794283
Concept ID:
C5562073
Disease or Syndrome
Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by Le Voyer et al., 2021; Vavassori et al., 2021).

Professional guidelines

PubMed

Xu X, Wang Q, Zhao Y, Xu X, Gan Z, Zhang S, Chen X
Brain Behav 2023 Oct;13(10):e3184. Epub 2023 Jul 26 doi: 10.1002/brb3.3184. PMID: 37492027Free PMC Article
Panwar J, Hsu CC, Tator CH, Mikulis D
J Neurotrauma 2020 May 15;37(10):1190-1196. Epub 2020 Jan 31 doi: 10.1089/neu.2019.6809. PMID: 31822164
Jordan YJ, Lightfoote JB, Jordan JE
J Natl Med Assoc 2009 Apr;101(4):331-5. doi: 10.1016/s0027-9684(15)30880-4. PMID: 19397223

Recent clinical studies

Etiology

Biswas A, Mankad K, Shroff M, Hanagandi P, Krishnan P
Pediatr Neurol 2020 Dec;113:56-65. Epub 2020 Aug 22 doi: 10.1016/j.pediatrneurol.2020.08.011. PMID: 33038575
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Gao C, Xu B
J Neurosurg Sci 2018 Aug;62(4):478-483. Epub 2018 Mar 26 doi: 10.23736/S0390-5616.18.04413-2. PMID: 29582977
Jensen SK, Lauridsen C
Vitam Horm 2007;76:281-308. doi: 10.1016/S0083-6729(07)76010-7. PMID: 17628178
Allen MC
Pediatr Clin North Am 1993 Jun;40(3):479-90. doi: 10.1016/s0031-3955(16)38545-5. PMID: 7684121

Diagnosis

Biswas A, Mankad K, Shroff M, Hanagandi P, Krishnan P
Pediatr Neurol 2020 Dec;113:56-65. Epub 2020 Aug 22 doi: 10.1016/j.pediatrneurol.2020.08.011. PMID: 33038575
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Moosa AN, Wyllie E
Handb Clin Neurol 2013;111:493-510. doi: 10.1016/B978-0-444-52891-9.00053-1. PMID: 23622198
Allen MC
Pediatr Clin North Am 1993 Jun;40(3):479-90. doi: 10.1016/s0031-3955(16)38545-5. PMID: 7684121

Therapy

Shah KC, Patel NS, Vasani P, Khadela A, Chavda VP, Vora L
J Med Case Rep 2023 Jul 21;17(1):313. doi: 10.1186/s13256-023-04033-6. PMID: 37475012Free PMC Article
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Lin YJ, Yang KY, Ho JT, Lee TC, Wang HC, Su FW
J Clin Neurosci 2010 Feb;17(2):250-3. Epub 2009 Dec 14 doi: 10.1016/j.jocn.2009.01.032. PMID: 20005722
Norman MG
Perspect Pediatr Pathol 1978;4:41-92. PMID: 366551

Prognosis

Biswas A, Mankad K, Shroff M, Hanagandi P, Krishnan P
Pediatr Neurol 2020 Dec;113:56-65. Epub 2020 Aug 22 doi: 10.1016/j.pediatrneurol.2020.08.011. PMID: 33038575
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Moosa AN, Wyllie E
Handb Clin Neurol 2013;111:493-510. doi: 10.1016/B978-0-444-52891-9.00053-1. PMID: 23622198
Bodemer C
Handb Clin Neurol 2013;111:341-7. doi: 10.1016/B978-0-444-52891-9.00040-3. PMID: 23622185

Clinical prediction guides

Guo Z, Mo J, Zhang C, Zhang J, Hu W, Zhang K
CNS Neurosci Ther 2023 Mar;29(3):855-865. Epub 2022 Nov 22 doi: 10.1111/cns.14021. PMID: 36415145Free PMC Article
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Moosa AN, Wyllie E
Handb Clin Neurol 2013;111:493-510. doi: 10.1016/B978-0-444-52891-9.00053-1. PMID: 23622198
Mischel PS, Vinters HV
Neurosurg Clin N Am 1995 Jul;6(3):565-79. PMID: 7670329

Recent systematic reviews

West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Ajaz F, Kudva YC, Erwin PJ
Endocr Pract 2007 Jul-Aug;13(4):384-8. doi: 10.4158/EP.13.4.384. PMID: 17669715

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