HYDRANENCEPHALY - keywords
hydranencephaly
r
e
f
e
r
e
n
c
e
s
n
a
v
i
g
a
t
o
r
Altshuler G: Toxoplasmosis as a cause of hydranencephaly. Am J Dis Child. 1973; 125(2): 251–252.
Aylward GP, Anthony L, John M: Behavioral and neurological characteristics of a hydranencephalic infant. Dev Med Child Neurol. 1978; 20(2): 211–217.
Bordarier C, Robain O (1988) Familial occurrence of prenatal encephaloclastic damage: anatomoclinical report of 2 cases. Neuropediatrics 20: 103–106.
Castro-Gago M, Pintos-Martinez E, Forteza-Vila J, Iglesias-Diz M, Ucieda-Somoza R, Silva-Villar I, Codesido-Lopez J, Viso-Lorenzo A, Campos Y,
Arenas J, Eiris-Punal J (2001) Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation withmitochondrial dysfunction. J Child Neurol 16: 858–862.
Bendon RW, Siddigi T, de Courten-Myers G, et al.: Recurrent developmental anomalies: 1. Syndrome with hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect. Am J Med Genet Suppl. 1987; 3: 357–365.
Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayol V, Etchevers HC, Vekemans M, Attie-Bitach T, Encha-Razavi F (2009) Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. Eur J Med Genet 52(6):386-92.
Bondeson ML, Ericson K, Gudmundsson S, Ameur A, Pontén F, Wesström J, Frykholm C, Wilbe M (2017) A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. Clin Genet, 92(5):510-516. doi: 10.1111/cge.13012.
Castro-Gago M, Pintos-Martinez E, Forteza-Vila J, Iglesias-Diz M, Ucieda- Somoza R, Silva-Villar I, Codesido-Lopez J, Viso-Lorenzo A, Campos Y, Arenas J, Eiris-Punal J (2001) Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction. J Child Neurol 16: 858–862.
Cecchetto G, Milanese L, Giordano R, Viero A, Suma V, Manara R (2013) Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol, 48(2):152-158.
Christie JD, Rakusan TA, Martinez MA, et al.: Hydranencephaly caused by congenital infection with herpes simplex virus. Pediatr Infect Dis. 1986; 5(4): 473–8.
Crome L (1972) Hydrencephaly. Dev Med Child Neurol 14: 224–226. (Annotation.)
Dublin AB, French BN (1980) Diagnostic imaging evaluation of hydranencephaly and pictorially similar entities, with emphasis on computed tomography. Radiology 137: 81–91.
Duffy SP, Shing J, Saraon P, Berger LC, Eiden MV, Wilde A, Tailor CS (2010) The Fowler syndrome-associated protein FLVCR2 is an importer of heme. Mol Cell Biol, 30(22):5318-5324.
Fernàndez F, Pèrez-Higueras A, Hernàndez R, et al.: Hydranencephaly after maternal butane-gas intoxication during pregnancy. Dev Med Child Neurol. 1986; 28(3): 361–363.Fowler M, Dow R, White TA, Greer CH (1972) Congenital hydrocephalus–hydrencephaly in five siblings, with autopsy studies: a new disease. Dev Med Child Neurol 14: 173–188.
Fowler M, Dow R, White TA, Greer CH (1972) Congenital hydrocephalus–hydrencephaly in five siblings, with autopsy studies: a new disease. Dev Med Child Neurol 14: 173–188.
Friede RL (1989) Developmental Neuropathology. Berlin: Springer-Verlag.
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE (2017) A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. J Med Genet, 54(7):490-501.
Govaert P, Vanhaesebrouck P, De Praeter C, Leroy J (1989) Hydranencéphalie et prise d’oestrogènes pendant la grossesse. Arch Franç Pédiatr 46: 235.
Hadi HA, Mashini IS, Devoe LD, et al.: Ultrasonographic prenatal diagnosis of hydranencephaly. A case report. J Reprod Med. 1986; 31(4): 254–6.
Halsey JH, Allen N, Chamberlin HR (1971) The morphogenesis of hydranencephaly. J Neurol Sci 12: 187–217.
Hamby WB, Krauss RF, Beswick WF: Hydranencephaly: Clinical Diagnosis Presentation of Seven Cases. Pediatrics. 1950; 6(3): 371–383.
Harding BN, Ramani P, Thurley P (1995) The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunocytochemical and ultrastructural evidence for endothelial proliferation. Neuropathol Appl Neurobiol 21: 61–67.
Hino-Fukuyo N, Togashi N, Takahashi R, Saito J, Inui T, Endo W, Sato R, Okubo Y, Saitsu H, Haginoya K (2016) Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. Pediatr Neurol, 54:39-42.e1
Hunter AGW: Brain. In Human malformations and related anomalies. 2nd Edition. Edited by Roger E Stevenson, Judith G Hall. New York: Oxford University Press; 2006; 639–645.
Husain T, Langlois PH, Sever LE, Gambello MJ (2008) Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. Birth Defects Res A Clin Mol Teratol, 82(6):435-440. doi: 10.1002/bdra.20449.
Jung Jack H, Graham JM Jr, Schultz N, et al.: Congenital hydranencephaly/porencephaly due to vascular disruption in monozygotic twins. Pediatrics. 1984; 73(4): 467–469.
Kelly TG, Sharif UM, Southern JF, et al.: An unusual case of hydranencephaly presenting with an anterior midline cyst, a posterior calcified mass, cerebellar hypoplasia and occlusion of the posterior cerebral arteries. Pediatr Radiol. 2011; 41(2): 274–7.
Kline-Fath BM, Merrow AC Jr, Calvo-Garcia MA, Nagaraj UD, Saal HM (2018) Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. Pediatr Radiol, 48(7):1032-1034.
Kurtz AB, Johnson PT: Diagnosis please. Case 7: Hydranencephaly. Radiology. 1999; 210(2): 419–22.
Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid BM, Nordgren A, Syk Lundberg E (2016) Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. Clin Genet 89(1):99-103.
Larroche JC, Droullé P, Delezoide AL, et al.: Brain damage in monozygous twins. Biol Neonate. 1990; 57(5): 261–278.
Laurichesse-Delmas H, Beaufrere AM, Martin A, Kaemmerlen AG, Dechelotte P, Lemery D (2002) First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol 20: 612–615.
Lin YS, Chang FM, Liu CH: Antenatal detection of hydranencephaly at 12 weeks, menstrual age. J Clin Ultrasound. 1992; 20(1): 62–4.
Lindenberg R, Swanson PD: "Infantile Hydranencephaly", a report of five cases of infarction of both cerebral hemispheres in infancy. Brain. 1967; 90(4): 839–850.
Lyon G, Robain O (1967) Etude comparative des encéphalopathies circulatoires prénatales et para-natales (hydranencéphalies, porencéphalies et encéphalomalacies kystiques de la substance blanche). Acta Neuropathol 9: 79–98.
Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM (2011) Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology, 76(9):844-846.
Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER (2010) Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am J Hum Genet 12;86(3):471-8.
Moore CA, Weaver DD, Bull MJ (1990) Fetal brain disruption sequence. J Pediatr 116: 383–386.
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL (2019) An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet, 27(4):657-662.
Raybaud C: Destructive lesion of the brain. Neuroradiology. 1983; 25(4): 265–291.
Roessmann U, Parks PJ (1978) Hydranencephaly in vertebral-basilar territory. Acta Neuropathol 44: 141–143.
Sandoval JI, De Jesus O (2021) Hydranencephaly. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.
Sen K, Kaur S, Stockton DW, Nyhuis M, Roberson J (2021) Biallelic Variants in LAMB1Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy. AJP Rep, 11(1):e26-e28. doi: 10.1055/s-0040-1722728.
Shitsama S, Wittayanakorn N, Okechi H, Albright AL (2014) Choroid plexus coagulation in infants with extreme hydrocephalus or hydranencephaly. J Neurosurg Pediatr, 14(1):55-57.
Stevenson DA, Hart BL, Clericuzio CL (2001) Hydranencephaly in an infant with vascular malformations. Am J Med Genet 104(4):295-8.
Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T (2010) High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat 31(10):1134-41.
Usta IM, AbuMusa AA, Khoury NG, et al.: Early ultrasonographic changes in Fowler syndrome features and review of the literature. Prenat Diagn. 2005; 25(11): 1019–23.
Wellons JC 3rd, Tubbs RS, Leveque JC, Blount JP, Oakes WJ (2002) Choroid plexectomy reduces neurosurgical intervention in patients with hydranencephaly. Pediatr Neurosurg, 36(3):148-152.
Wijerathne BT, Rathnayake GK and Ranaraja SK. A rare variation of hydranencephaly: case report [v3; ref status: indexed, http://f1000r.es/2x2] F1000Research 2014, 1:22
Williams D, Patel C, Fallet-Bianco C, Kalyanasundaram K, Yacoubi M, Déchelotte P, Scott R, Bazin A, Bessières B, Marton T, Cox P (2010) Fowler syndrome-a clinical, radiological, and pathological study of 14 cases. Am J Med Genet A 152A(1):153-60.
Zhu X, Di Rocco C (2013) Choroid plexus coagulation for hydrocephalus not due to CSF overproduction: a review. Childs Nerv Syst, 29(1):35-42.
hydranencephaly: references
<
>
Hydranencephaly is due to destruction of both cerebral hemispheres, which are replaced with a gliomeningeal sac filled with CSF (Sandovall and de Jesus 2021). Hydranencephaly is therefore a prototype of a focal encephaloclastic lesion, i.e. an anomaly due to a disruption of normally developed structures. Its reported incidence varies, but is an infrequent condition seen in 1 to 2 of 10.000 pregnancies, and in 1.4 to 2.8 per 100.000 live births (Husain et al. 2008, Hino-Fukuyo et al. 2016). Hydranencephaly develops in utero, usually in the second trimester. Cases have been detected with ultrasound as early as 12 weeks gestation. Most fetuses with hydranencephaly die in utero. Those born alive have a normal respiratory function, and can be able to suck and swallow due to the integrity of the brainstem. Facial features are normal. The cranium is enlarged and transilluminates. Surviving patients develop spastic cerebral palsy, severe developmental delay, gradual impossibility of oral feeding, episodic dysthermoregulation, drug-resistant epilepsy and visual impairment. The majority of children die during the first year of life, with exceptional survival over 30 years (Cecchetto et al. 2013). Some children may smile or react to sound. All are blind. The EEG is typically flat, as are visual evoked responses, important features in the distinction from extreme hydrocephalus.
Treatment consists of supportive management of symptoms and complications. Ventriculoperitoneal shunt placement does not improve prognosis, but may be considered to palliate progressive hydrocephalus. Choroid plexus coagulation and choroid plexectomy have been proposed for the treatment of hydranencephaly or extreme hydrocephalus (Wellons et al. 2002, Zhu and DiRocco 2013, Shitsama et al. 2014).
Fowler syndrome
examples
causes of hydranencephaly
---------------------------------------------------------------------
• Infectious fetopathy
• Extensive forebrain arterial ischaemic stroke
• Maternal hypotension/hypoxia
• Maternal cocaine abuse, smoking, oestrogen use
• Extensive haemorrhagic venous infarction
• Genetic causes see Fowler syndrome
hydranencephaly
Although in some autopsied cases major cerebral arterial occlusion was found, the primary cause seems to be hypoperfusion rather than actual vascular thrombosis, embolic obstruction or vasculitis. Cases are on record of absent bilateral carotid arteries, angiomatous change of the petrous portion of the carotid arteries, and stenosis of the internal carotid artery. Congenital CMV infection with hydranencephaly is reported, where atheromatous plaque sits in the aortic arch between the carotid branches. Secondary to brain area infarction, however, these arteries involute at a later stage, making interpretation of the arterial component difficult in the absence of associated other vascular features or genetic support for the ‘artery first’ theory.
Fetal ischaemia due to systemic maternal hypoxia with secondary fetal asphyxia may be the consequence of, among others, gas intoxication (carbon monoxide, butane), shock after an accident, or allergic reaction. Infarction in the region of both middle and posterior cerebral arteries can occur following in utero demise of a monozygous twin.
Agents associated with hydranencephaly include Toxoplasma gondii, cytomegalovirus, herpes simplex virus, varicella zoster virus, rubella virus, Listeria monocytogenes, Treponema pallidum and equine virus.
Prenatal vascular disruption has been linked to low maternal age for entities such as gastroschizis, septo-optic dysplasia, hemifacial anomalies and hydranencephaly.
Smoking may also be relevant in this context. One personal case was complicated by maternal smoking and oestrogen use throughout pregnancy (Govaert et al 1989).
neuropathology
imaging, with ∆∆
hydranencephaly: imaging
∆∆
-----------------------------------------------------------------
microhydranencephaly
brain disruption sequence
multicystic encephalopathy
posthaemorrhagic destruction (collagen 4A mutation)
PVHH (Fowler syndrome)
Unilateral hydranencephaly (hemi-hydranencephaly) will occur with unilateral total infarction in the area of the internal carotid artery, semantically overlapping with porencephaly. Hydranencephaly is nearly always associated with hydrocephalus, possibly due to aqueduct stenosis. If not, the condition is named microhydranencephaly.
hydranencephaly: neuropathology
An accepted pathogenesis is massive bilateral supraclinoid internal carotid artery hypoperfusion/occlusion, with onset as early as 8-12 weeks of gestation (Hamby et al. 1950, Lyon 1967, Lindenberg and Swanson 1967, Halsey et al. 1971, Crome 1972, Fowler et al. 1972, Altshuler 1973, Roessmann and Parks 1978, Dublin and French 1980, Raybaud 1983, Christie et al. 1986, Hadi et al. 1986, Friede 1989, Larroche et al. 1990, Moore et al. 1990, Harding et al. 1995, Kurtz et al. 1999, Hunter 2006, Cecchetto et al. 2013). In the presence of occipital telencephalic remnants, the posterior cerebral artery (PCA) must have been spared. Extreme brain swelling due to bilateral carotid occlusion may in some still cause pial PCA occlusion only, explaining why the thalamus is preserved, even if atrophied due to transneuronal degeneration.
Empty spaces caused by necrosis are bordered toward the surface by a gliomeningeal membrane without ependyma and with neuronal encrustation. Consequently, cortical layers are no longer present in these areas, a significant differential characteristic. Adjacent residual cerebral cortex may develop polymicrogyria. The sac wall, a gliotic-pial remnant, continues into the molecular layer of the remaining adjacent cortex. Contrary to schizencephaly, there is no pio-ependymal seam in hydranencephaly and ventricles can no longer be recognized. Cerebellum and brainstem structures beneath the oculomotor nucleus are present but with histological changes (such as atrophy of the pyramidal tracts). Inspection of the cervical spinal cord may assist in timing of the lesion, as lesions occurring before the fifth month of pregnancy can cause relative overgrowth of the nuclei gracilis and cuneati. The thalamus is present but is atrophied in parts that project onto absent cortex (transsynaptic degeneration). Choroid plexus floats behind thalamus. Striatal remnants may be present. Optic nerves and tracts atrophy secondarily. The falx can be absent. Exceptionally thalamus, basal ganglia and falx may also be absent (Wijerathne et al. 2014).
By definition, the hippocampus, basal parts of the temporal lobes, occipital lobes, and orbitofrontral cortex remain following selective bilateral hypoperfusion of the internal carotid arteries alone. When one or both anterior cerebral arteries (ACAs) maintained perfusion, this is referred to as a “basket brain” because the residual structures within the ACA territory constitute a kind of handle around absent tissue.
Isolated vertebro-basilar hydranencephaly is a curiosity, possibly due to haemorrhagic infarction with cerebellar destruction (Roessmann and Parks 1978). This may have been due to in utero basilar and PCA occlusion.
Very rare is the association of bilateral MCA and PCA infarction, sparing only parts of the brain perfused by the ACA and deep perforators.
genetic hydranencephaly has been further reported in association with:
- cystic renal dysplasia
- extensive cutaneous port-wine stains and retinal vascular malformation (Stevenson et al. 2001)
- 13q22 deletion
- lethal multiple pterygium syndrome.
Fowler syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly (PVHH)
Exceptional cases of familial hydranencephaly have been reported. The diagnosis of proliferative vasculopathy and hydrocephaly-hydranencephaly (PVHH, Fowler syndrome, Fowler et al. 1972) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester. A 17-week fetus reported by Harding et al. 1995 showed severe arthrogryposis, pterygia and muscular hypoplasia. Massive cystic dilatation of the cerebral ventricles with thin disorganized pallium was associated with calcifications and characteristic glomeruloid vasculopathy throughout the CNS, inlcuding brainstem, basal ganglia and spinal cord (Laurichesse-Delmas et al. 2002).
The glomeruloid vasculopathy, unique to this disorder, has ill-defined vascular channels, prominent reticulin network and inclusion-bearing cells which immunocytological and ultrastructural studies suggest are endothelial cells. Present findings suggest a primary role for this glomeruloid vasculopathy at the time of vasculogenesis of the cerebral mantle during the first trimester.
With this vasculopathy, immunohistological response to a marker of pericytes (SMA, Smooth in PGV Muscle Actin), is reduced. This suggests the pathogenesis may be related to abnormal pericyte-dependent modelling during angiogenesis.At autopsy the cerebral cortex is a translucent membrane (hydranencephaly) in most fetuses. However, the ventricles may be dilated but the cortical mantle relatively well preserved. Histology shows variable extent of vasculopathy of the central nervous system. Dystrophic calcification and necrosis are present. The typical proliferative vasculopathy is never observed outside the central nervous system.
Extracranial anomalies include micrognathia (almost all), cleft palate, cystic hygroma, joint contractures and pterygia (all).
Previous and present case data support autosomal recessive inheritance, contrary to encephaloclastic hydranencephaly from which PVHH can be readily differentiated by microscopic examination. A sib of one affected infant was diagnosed with mitochondrial respiratory chain defect (Castro-Cago et al. 2001).
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790) caused by mutations in FLVCR2, may lead to survival beyond infancy (Kvarnung et al. 2016). FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily (MFS) hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis (Meyer et al. 2010).
A diffuse form of glomeruloid vasculopathy affecting the entire CNS resulting in classical Fowler syndrome is different from focal forms, confined to restricted territories of the CNS.
term infant with macrocephaly: typical supratentorial hydranencephaly; complete absence of cortical plate and white matter in the entire hemispheric wall (except for some occipitotemporal remnants not shown here); the thalami are present but atrophic and clearly separated
interruption of pregnancy: splaying of the atrophic thalami, absence of a cortical mantle and preservation of the brainstem from mesencephalic level downwards
preterm infant with apnoea: ‘basket brain’; the left anterior cerebral artery, still perfused, maintains a bridge of tissue around the remnants of a complete infarction in the left middle cerebral artery; on the right there has been necrosis of the areas perfused by the internal carotid artery; the presumed cause of this event was the combination of maternal smoking and anticonceptive oestrogen use (right: parasagittal section through remnants within the anterior cerebral artery)
COL4A1 mutation can be associated with severe brain injury of antenatal onset, which can be early in pregnancy, but apparently most > 20 wks gestation; cerebellum is involved in these severely affected cases, which differentiates it from hydranencephaly
Mac OS X 2ÖATTRÜ,Ücom.apple.TextEncodingë com.apple.provenanceöcom.apple.quarantineutf-8;134217984Â. Im0ÖWq/0081;00000000;;