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Periventricular cysts

MedGen UID:
326980
Concept ID:
C1839858
Finding
HPO: HP:0007109

Term Hierarchy

Conditions with this feature

Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).
Mitochondrial complex III deficiency nuclear type 9
MedGen UID:
863690
Concept ID:
C4015253
Disease or Syndrome
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
MedGen UID:
1624694
Concept ID:
C4540052
Disease or Syndrome
NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017).
Rajab interstitial lung disease with brain calcifications 2
MedGen UID:
1770895
Concept ID:
C5436603
Disease or Syndrome
Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019). For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658).
Neurodevelopmental disorder with alopecia and brain abnormalities
MedGen UID:
1775930
Concept ID:
C5436741
Disease or Syndrome
Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair is typically present at birth but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life. Rare findings may include seizures with onset in later childhood and conductive hearing loss.

Professional guidelines

PubMed

Lin YJ, Chiu NC, Chen HJ, Huang JY, Ho CS
Pediatr Neonatol 2021 Mar;62(2):158-164. Epub 2020 Nov 2 doi: 10.1016/j.pedneo.2020.10.012. PMID: 33214065
Cooper S, Bar-Yosef O, Berkenstadt M, Hoffmann C, Achiron R, Katorza E
AJNR Am J Neuroradiol 2016 Dec;37(12):2382-2388. Epub 2016 Sep 8 doi: 10.3174/ajnr.A4916. PMID: 27609618Free PMC Article
Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F
Childs Nerv Syst 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16 doi: 10.1007/s00381-003-0782-5. PMID: 12879343

Recent clinical studies

Etiology

Pengam A, Delorme B, Boussion F, Van Bogaert P, Bouet PE, Loisel D
Arch Pediatr 2023 Oct;30(7):493-500. Epub 2023 Sep 12 doi: 10.1016/j.arcped.2023.06.010. PMID: 37704521
Dhondt C, Maes L, Van Acker E, Martens S, Vanaudenaerde S, Rombaut L, De Cuyper E, Van Hoecke H, De Leenheer E, Dhooge I
Ear Hear 2023 Nov-Dec 01;44(6):1354-1366. Epub 2023 May 1 doi: 10.1097/AUD.0000000000001377. PMID: 37122081
De Cuyper E, Acke F, Keymeulen A, De Leenheer EMR, Van Hoecke H, Padalko E, Boudewyns A, Gilles A, Muylle M, Kuhweide R, Royackers L, Desloovere C, Verstreken M, Schatteman I, Dhooge I
JAMA Otolaryngol Head Neck Surg 2023 Feb 1;149(2):122-130. doi: 10.1001/jamaoto.2022.4109. PMID: 36580312Free PMC Article
Neuhaus E, Hattingen E, Breuer S, Steidl E, Polomac N, Rosenow F, Rüber T, Herrmann E, Ecker C, Kushan L, Lin A, Vajdi A, Bearden CE, Jurcoane A
AJNR Am J Neuroradiol 2021 Nov;42(11):2070-2076. Epub 2021 Oct 7 doi: 10.3174/ajnr.A7283. PMID: 34620586Free PMC Article
Allen MC
Pediatr Clin North Am 1993 Jun;40(3):479-90. doi: 10.1016/s0031-3955(16)38545-5. PMID: 7684121

Diagnosis

Dhondt C, Maes L, Van Acker E, Martens S, Vanaudenaerde S, Rombaut L, De Cuyper E, Van Hoecke H, De Leenheer E, Dhooge I
Ear Hear 2023 Nov-Dec 01;44(6):1354-1366. Epub 2023 May 1 doi: 10.1097/AUD.0000000000001377. PMID: 37122081
De Cuyper E, Acke F, Keymeulen A, De Leenheer EMR, Van Hoecke H, Padalko E, Boudewyns A, Gilles A, Muylle M, Kuhweide R, Royackers L, Desloovere C, Verstreken M, Schatteman I, Dhooge I
JAMA Otolaryngol Head Neck Surg 2023 Feb 1;149(2):122-130. doi: 10.1001/jamaoto.2022.4109. PMID: 36580312Free PMC Article
Gilani A, Hove JLV, Thomas JA, Kleinschmidt-DeMasters BK
Pediatr Dev Pathol 2020 May-Jun;23(3):189-196. Epub 2019 Sep 22 doi: 10.1177/1093526619876448. PMID: 31542992
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Allen MC
Pediatr Clin North Am 1993 Jun;40(3):479-90. doi: 10.1016/s0031-3955(16)38545-5. PMID: 7684121

Therapy

Di Mascio D, Sileo FG, Khalil A, Rizzo G, Persico N, Brunelli R, Giancotti A, Panici PB, Acharya G, D'Antonio F
Ultrasound Obstet Gynecol 2019 Aug;54(2):164-171. Epub 2019 Jul 11 doi: 10.1002/uog.20197. PMID: 30549340
Akbari SH, Holekamp TF, Murphy TM, Mercer D, Leonard JR, Smyth MD, Park TS, Limbrick DD Jr
Childs Nerv Syst 2015 Feb;31(2):243-9. Epub 2014 Nov 29 doi: 10.1007/s00381-014-2596-z. PMID: 25432856
Graziani LJ, Spitzer AR, Mitchell DG, Merton DA, Stanley C, Robinson N, McKee L
Pediatrics 1992 Oct;90(4):515-22. PMID: 1408502
Taylor GA, Fitz CR, Kapur S, Short BL
AJR Am J Roentgenol 1989 Aug;153(2):355-61. doi: 10.2214/ajr.153.2.355. PMID: 2665454

Prognosis

Dhondt C, Maes L, Van Acker E, Martens S, Vanaudenaerde S, Rombaut L, De Cuyper E, Van Hoecke H, De Leenheer E, Dhooge I
Ear Hear 2023 Nov-Dec 01;44(6):1354-1366. Epub 2023 May 1 doi: 10.1097/AUD.0000000000001377. PMID: 37122081
De Cuyper E, Acke F, Keymeulen A, De Leenheer EMR, Van Hoecke H, Padalko E, Boudewyns A, Gilles A, Muylle M, Kuhweide R, Royackers L, Desloovere C, Verstreken M, Schatteman I, Dhooge I
JAMA Otolaryngol Head Neck Surg 2023 Feb 1;149(2):122-130. doi: 10.1001/jamaoto.2022.4109. PMID: 36580312Free PMC Article
Escobar Castellanos M, de la Mata Navazo S, Carrón Bermejo M, García Morín M, Ruiz Martín Y, Saavedra Lozano J, Miranda Herrero MC, Barredo Valderrama E, Castro de Castro P, Vázquez López M
Neurologia (Engl Ed) 2022 Mar;37(2):122-129. Epub 2021 Sep 14 doi: 10.1016/j.nrleng.2018.11.011. PMID: 34531153
Nishida K, Fujioka K, Sugioka Y, Abe S, Ashina M, Fukushima S, Ohyama S, Ikuta T, Tanimura K, Yamada H, Iijima K, Morioka I
Neonatology 2020;117(4):460-466. Epub 2020 Jun 3 doi: 10.1159/000508218. PMID: 32492677
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944

Clinical prediction guides

De Cuyper E, Acke F, Keymeulen A, De Leenheer EMR, Van Hoecke H, Padalko E, Boudewyns A, Gilles A, Muylle M, Kuhweide R, Royackers L, Desloovere C, Verstreken M, Schatteman I, Dhooge I
JAMA Otolaryngol Head Neck Surg 2023 Feb 1;149(2):122-130. doi: 10.1001/jamaoto.2022.4109. PMID: 36580312Free PMC Article
Escobar Castellanos M, de la Mata Navazo S, Carrón Bermejo M, García Morín M, Ruiz Martín Y, Saavedra Lozano J, Miranda Herrero MC, Barredo Valderrama E, Castro de Castro P, Vázquez López M
Neurologia (Engl Ed) 2022 Mar;37(2):122-129. Epub 2021 Sep 14 doi: 10.1016/j.nrleng.2018.11.011. PMID: 34531153
Nishida K, Fujioka K, Sugioka Y, Abe S, Ashina M, Fukushima S, Ohyama S, Ikuta T, Tanimura K, Yamada H, Iijima K, Morioka I
Neonatology 2020;117(4):460-466. Epub 2020 Jun 3 doi: 10.1159/000508218. PMID: 32492677
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Manara R, Balao L, Baracchini C, Drigo P, D'Elia R, Ruga EM
Pediatr Radiol 2011 Aug;41(8):962-70. Epub 2011 May 20 doi: 10.1007/s00247-011-2120-5. PMID: 21597906

Recent systematic reviews

Di Mascio D, Sileo FG, Khalil A, Rizzo G, Persico N, Brunelli R, Giancotti A, Panici PB, Acharya G, D'Antonio F
Ultrasound Obstet Gynecol 2019 Aug;54(2):164-171. Epub 2019 Jul 11 doi: 10.1002/uog.20197. PMID: 30549340

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