EXTENSIVE CEREBELLAR DESTRUCTION - keywords
extensive cerebellar destruction
references to absence of cerebellum
r
e
f
e
r
e
n
c
e
s
n
a
v
i
g
a
t
o
r
<
Bednarek N, Scavarda D, Mesmin F, Sabouraud P, Motte J, Morville P (2005) Midbrain disconnection: an aetiology of severe central neonatal hypotonia. Eur J Paediatr Neurol 9:419-422.
Boltshauser E, Schneider J, Kollias S, et al. Vanish- ing cerebellum in myelomeningocoele. Eur J Pae- diatr Neurol 2002;6(2):109–13.
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.
Calandrelli R, Tuzza L, Romeo DM, Arpaia C, Colosimo C, Pilato F. Extremely Preterm Infants with a Near-total Absence of Cerebellum: Usefulness of Quantitative Magnetic Resonance in Predicting the Motor Outcome. Cerebellum. 2024 Jun;23(3):981-992.
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, Glickstein M (1994) Cerebellar agenesis. Brain, 117: 1209-1212.
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. doi: 10.1136/jmedgenet-2016-104296.
Gorincour G, Rypens F, Lapierre C, Costa T, Audibert F, Robitaille Y. Fetal magnetic resonance imaging in the prenatal diagnosis of cerebellar hemorrhage. Ultrasound Obstet Gynecol 2006;27(1):78-80.
Leck E, Pickett GE. Two Curious Cases of Complete Cerebellar Agenesis. Can J Neurol Sci. 2022 Sep;49(5):719-721.
Malinger G, Zahalka N, Kidron D, Ben-Sira L, Lev D, Lerman-Sagie T. Fatal outcome following foetal cerebellar haemorrhage associated with placental thrombosis. Eur J Paediatr Neurol 2006;10(2):93-6.
Poretti A, Leventer RJ, Cowan FM, Rutherford MA, Steinlin M, Klein A, Scheer I, Huisman TAGM, Boltshauser E. Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics 2008;39:106-112.
Poretti A, Boltshauser E, Huisman TA. Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury. Neuroimaging Clin N Am. 2016 Aug;26(3):359-72.
Qajia H, Choumad S, El Bakari F, Eddahoumi Y, Allali N, Chat L, El Haddad S. Unilateral agenesis of the right cerebellar hemisphere in a child: When one hemisphere is missing, the brain adapts. Radiol Case Rep. 2026 May 7;21(8):3032-3034.
Ranzini AC, Shen-Schwarz S, Guzman ER, Fisher AJ, White M, Vintzileos AM. Prenatal sonographic appearance of hemorrhagic cerebellar infarction. J Ultrasound Med 1998;17(11):725-7.
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. doi: 10.1038/s41431-018-0306-0.
Robins JB(1), Mason GC, Sener RN. Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. Comput Med Imaging Graph 1995;19(6):491–4.
Robinson RO, Trounce JQ, Janota I, Cox T (1993) Late fetal pontine destruction. Pediatr Neurol 9:213-215.Schmahmann JD, Sherman JC. The cerebellar cognitive affective syndrome. Brain 1998;121(Pt 4): 561–79.
Strong OS. A case of unilateral cerebellar agenesis. J Comp Neurol 1915;25:361–91.Taori KB, Sargar KM, Disawal A, Chhadi S, Rathod J. Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas. Pediatr Radiol. 2011 Feb;41(2):270-3.
Van Coster RN, De Praeter CM, Vanhaesebrouck PJ, Leroy JG. MRI findings in a neonate with cerebellar agenesis. Pediatr Neurol. 1998 Aug;19(2):139-42.
Watters J, Martinez D (1998) Case report: cerebellar hemi-hypoplasia. Prenat Diagn. 1998 Feb;18(2):173-7.
>
posterior fossa hydranencephaly
complete cerebellar agenesis
exensive cerebellar destruction
unilateral cerebellar hypoplasia
s
u
m
m
a
r
y
In many congenital anomalies of the posterior fossa the size, shape and volume of the cerebellum is affected. In this chapter we discuss disorders with destruction sequences in utero or during the neonatal period that lead to extensive cerebellar tissue loss. Such events occur in extreme preterm infants with large perinatal bilateral cerebellar haemorrhage or infarction (Calandrelli et al. 2024). But typical presentations relate to in utero changes in a sequence after haemorrhage or arterial infarction.
pontocerebellar hypoplasia
vanishing cerebellum
example of unilateral cerebellar postnatal haemorrhagic destruction in a newborn at 25w PMA
extensive cerebellar destruction: summary
complete hydranencephaly
In hydranencephaly brain destruction is almost complete in a bilateral internal carotid artery distribution, with the cerebral hemispheres replaced by fluid covered with leptomeninges and dura. Although the pathogenesis of hydranencephaly is thought to be a vascular accident, this cannot always be confirmed because internal carotid arteries can be present at autopsy. In a typical instance, the brainstem is atrophic; however, the cerebellum is almost always normal. In the Taori et al. 2011 case description, cerebellum was cystic, filled with CSF and lined by the meninges. Tentorium and falx cerebelli were present. Bilateral microphthalmia and colobomas were present in addition.
Postmortem findings in a neonate with haemostatic dysfunction was compatible with infarction within the vertebro-basilar system although occlusion of the basilar artery was not described (Roessman and Parks 1978). A haemorrhagic component may have been primary or secondary. The frontal, parietal, and lateral gyri of the temporal lobes appeared intact, while the temporal tips and inferior surfaces as well as the entire occipital lobes were reduced to translucent membranes. The midbrain was flattened. The entire brain stem was much reduced in size. The tentorium was flattened and its incisura greatly enlarged. The cerebellum was replaced in its entirety by a thin, brownish membrane adherent to the dura. No folia could be recognized. The external appearance and distribution of the vessels of the circle of Willis were normal. The entire ventricular system was greatly distended, with the cortical mantle varying from 2 cm at the frontal poles to 0.3 cm at the membranous portions. The corpus callosum was markedly thinned; the septum pellucidum was fenestrated. The flattened basal ganglia were identifiable in their usual position. The ventricular surface was smooth; no opening was found from the third ventricle into the aqueduct. The optic nerves and tracts were not myelinated. The fourth ventricle was greatly extended, and the brain stem was thin and flattened. The spinal cord showed no changes.
On microscopic examination the intact cerebral cortex showed normal architecture. No polymicrogyria or heterotopias were found. The ventricular wall was overlaid with a thick layer of glial cells, under which were buried multiple islets of ependymal cells.
posterior fossa hydranencephaly
Amorphous eosinophilic material which stained red with trichrome was found within the subependymal proliferation. Slight macrophage reaction surrounded these foci, and many hemosiderin-laden macrophages were scattered throughout. The basal ganglia were hypocellular but well organized. A typical glial-pial membrane replaced the damaged parts of the occipital and the temporal lobes. The arachnoid was thick and contained many haemophages. The choroid plexus carried pronounced iron-positive deposits under the brush border of the ependymal cells. The aqueduct was occluded by glial scar. The third nerve and mesencephalic fifth nerve nuclei were identified in the proper areas, but the cerebral peduncles were hypoplastic and the neuronal population of the substantia nigra greatly reduced. Astrocytic proliferation and neuronal loss were also obvious in the colliculi. The entire cerebellum was replaced by a pial-glial scar with only faint outlines of folia, evident in the basal zones. The floor of the fourth ventricle presented with a subependymal scar identical to that in the cerebral ventricles. Within the pial-glial scar and in the very thick arachnoid there were many hemosiderin-laden macrophages. As in the midbrain,the tegmentum of the pons and of the medulla was normal. The basis pontis was small and consisted entirely of astrocytic proliferation. Neither descending, ascending nor transverse tracts could be identified, and nuclei pontis were totally obliterated. In the medulla oblongata the inferior olivary nucleus was completely replaced by a scar and the pyramids were extremely thin. In the spinal cord the dorsal columns were large and showed early myelination. The posterior horns were depressed downwards and the lateral columns greatly decreased in size. The anterior columns were not remarkable.
Unilateral hemispheric cerebellar hypoplasia can
be asymptomatic, present with Moebius syndrome
or be part of PHACES syndrome. Vermis is involved
in about half. The ipsilateral cerebellar peduncles
and the contralateral inferior olivary nucleus are
secondarily atrophied (Strong 1915, Quajia et al. 2026).
A strong case has been made for the possibility that
focal cerebellar disruption with clefts in the parenchyma,
connected or not to the fourth ventricle, is the result of prenatal infarction or bleeding (Poretti et al. 2016). Cerebellar haemorrhage is not rare in fetal ultrasound between 18 and 24 w PMA. Postnatal MR with SWI can (not always) detect the haemorrhagic mechanism.
Minor asymmetry of the cerebellar hemispheres is often an incidental finding, whereas marked unilateral hypoplasia may present with signs in infancy or early childhood: truncal and limb ataxia, hypotonia, squint, and head nodding, headache. Cognitive outcome is variable, cerebellar vermis aplasia/atrophy apparently bing a good predictor of poor cognition: difficulties in memory and executive functions, graphomotor and arithmetical skills, social perception. Dysarthria and lack of expressive language are common in children with unilateral cerebellar hypoplasia. Attention deficit hyperactivity disorder, depressive mood, anxiety, and catatonia with obsessive-compulsive disorder may also occur in some minor variation of the same in older children and adults with unilateral cerebellar destruction (Shmahmann and Sherman 1998).
With bilateral absence of the hemispheres there is a high likelihood of a genetic condition. Postnatal unilateral cerebellar atrophy is seen following extensive cerebellar infarction or bleeding, often in preterm infants. Such events, if occurring in utero, will present with uni- or bilateral cerebellar hemisphere destruction.
after Quaija et al. 2026
unilateral cerebellar hypoplasia/destruction
In an early neonatal MR description (van Coster et al. 1998: presentation at term with polyhydramnios, horizontal nystagmus, tachypnoea alternating with apnoea) cerebellar structures were not recognisable. The mesencephalon had a normal aspect, and the aqueduct seemed patent. The basis pontis was nearly absent. At the ventral meduall oblongata the normal outline of the inferior olives was not detectable on either side. Two minute nodules were seen bilaterally at the dorsolateral side of the lower part of the mesencephalon. A membranous structure formed a large cyst occupying most of the posterior fossa. There was neither upward displacement of the tentorium nor inflation of the posterior fossa. Cerebral sulcation was normal, as was the corpus callosum. Shape and proportion of the cerebral ventricles were preserved. The caudate nuclei, putamina, and globi pallidi appeared normal. The thalami appeared fused at the midline. The pituitary and its stalk had a normal appearance. It is likely that the large cystic space represented the fourth ventricle.
Cerebellar agenesis has to be differentiated from cerebellar hypoplasia. The latter refers to a proportionate reduction of the whole organ and occurs either as an isolated anomaly or as part of a more complex malformation syndrome.
Apart from congenital anomalies, destructive cerebellar lesions must be included in the differential diagnosis. Cerebellar haemorrhage in the neonate may result in parenchymal destruction, but in most the extent of subsequent atrophy is limited and often asymmetric. Rarely is a subtotal cerebellar destruction found.
complete cerebellar agenesis
newborn propositus from van Coster et al. 1998
adult example from Leck and Pickett 2022
Of 20 instances reviewed of complete cerebellar agenesis (Leck and Picket 2022), five were infants, one was discovered incidentally at autopsy in a 38-year-old, another was a 17-year-old with mild cognitive impairment, moderate ataxia and dysmetria, but functionally independent. Two patients underwent diffusion tensor imaging, showing absence of fibers from the brainstem into the posterior fossa, but unaffected supratentorial white matter tracts. Dandy-Walker and Chiari malformations were not included in the review.
Minute remnants of cerebellar tissue were found in all. Inferior olives were either malformed or absent, and the pons was either hypoplastic or absentCharacteristic presentation was with impairment of equilibrium and gait, and inability to direct complex learned movements. Cerebellar cognitive affective syndrome presented with executive and visuospatial disorders, expressive language disorders and blunted affect. Some received a diagnosis of cerebral palsy, never questioned until they sought medical attention many years later.
In every well-documented instance of cerebellar absence profound motor dysfunction was noted (Glickstein 1994).
The discussion of pontocerebellar hypoplasia is beyond the present item. An example is provided with a diagnostic algorithm.
pontocerebellar hypoplasia
spinal dysraphism with neonatal CUS in difficulty to demonstrate cerebellar tissue
vanishing cerebellum
In spinal dysraphism a small posterior fossa is believed to result from a deficient expansion of the rhombencephalic vesicle secondary to CSF leakage by open spinal dysraphism. The cerebellum is drawn through the foramen magnum into the upper cervical spinal canal. In a subgroup of Chiari II instances, the degree of tissue injury is so severe that the cerebellum is nearly completely absent (Sener 1995, Boltshauser et al. 2002, Poretti et al. 2016). The damage to the cerebellum typically involves predominantly only one cerebellar hemisphere, whereas the vermis is spared or less severely affected. Vascular compromise is probably part of the mechanism.
An infant with absence of pons and basilar artery, presentied with immediate stridor at birth, absence of facial mimicry, absent sucking and swallowing, congenital tetraplegia with clonus, normal breathing but with erratic apnoea, absent vestibular/Moro/corneal/gag/ATNR reflexes. Pupillary responses were normal. MRI revealed absence of the pons, the gap partly filled by a normally formed but generally hypoplastic and anteverted cerebellum, disconnected from the brainstem.
brainstem disconnection
Absence of inferior olives and straightening of the dentate nuclei has been reported in a similar instance, suggesting possible basilar artery stroke in mid-third trimester, certainly later than the formation of an atrophied but present pyramidal tract at medullary level. Bednarek et al. 2005 reviewed four instances of midbrain disconnection, where the brainstem at lower mesencephalic and higher pontine level was absent.
Mac OS X 2°âATTRâ¼&¼com.apple.TextEncodingËcom.apple.quarantineutf-8;134217984q/0082;6ab4022c;Hype4;