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Hydranencephaly in Monochorionic-Diamniotic Twins
Accepted Manuscript Hydranencephaly in Monochorionic-Diamniotic Twins Nicholas Huff, MD, Sunil Naik, MD PII:
S0887-8994(16)30238-7
DOI:
10.1016/j.pediatrneurol.2016.08.002
Reference:
PNU 8959
To appear in:
Pediatric Neurology
Received Date: 11 April 2016 Accepted Date: 4 August 2016
Please cite this article as: Huff N, Naik S, Hydranencephaly in Monochorionic-Diamniotic Twins, Pediatric Neurology (2016), doi: 10.1016/j.pediatrneurol.2016.08.002. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT
Hydranencephaly in Monochorionic-Diamniotic Twins
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Home Address and Phone: 3000 Staunton Ave, Apartment 26 Charleston, WV 25304 (724) 237-7194
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Lead/Corresponding author: Nicholas Huff, MD [email protected] Charleston Area Medical Center Department of Pediatrics (Resident) 800 Pennsylvania Ave Charleston, WV 25302
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Additional authors: Sunil Naik, MD [email protected] Charleston Area Medical Center Pediatric Neurology Suite 201, 830 Pennsylvania Avenue Charleston, WV 25302 (304) 388-6950
ACCEPTED MANUSCRIPT
Hydranencephaly in Monochorionic-Diamniotic Twins Nicholas Huff, Sunil Naik
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We report monochorionic-diamniotic twin males delivered at 34 weeks gestation. Routine prenatal ultrasound at 27 weeks gestation had raised concern for alobar holoprosencephaly for both. Following spontaneous vaginal delivery, the patients were stable in the nursery and fed well. On exam, Twin A was macrocephalic, while Twin B’s head size was normal. Both had normal facies and grossly normal appearance. They were arousable, with good cry, reflexive pain withdrawal, intact eye tracking, normal tone and normal deep tendon reflexes. Physical examinations were otherwise normal. MRIs of the brain were ordered. Both images showed replacement of nearly all cerebral tissue by a single large membranous sac, consistent with hydranencephaly (See Fig. 1 and 2). The twins were discharged from the newborn nursery to hospice care. Twin A died within three weeks, while Twin B remains under hospice care. Discussion
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Hydranencephaly is a rare congenital condition in which cerebral hemispheres are absent, replaced by a large fluid-filled cyst. There is usually preservation of the deeper structures such as cerebellum, midbrain, thalami, and basal ganglia. The diagnosis may initially be overlooked due to normal appearance and behavior at birth, as brainstem functions are preserved. Eventual development of seizures and extensive neurologic deficits is expected. Survival is poor outside of infancy.1
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Known associations include infections, toxins, and occlusive disease. The most commonly accepted theory for the pathophysiology of the disorder is vascular disruption of the carotid arteries.2,3 Diagnosis is usually confirmed radiologically. In contrast to alobar holoprosencephaly, there is typically an intact falx cerebri, normal thalami and unaffected facial anatomy.1
References
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There is an association between hydranencephaly and twin monochorionic pregnancies, in which one twin is affected following early intrauterine death of the other twin. This is a rare phenomenon. Diagnosis in a set of liveborn twins is even rarer, with only a few cases reported.
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[1] Dolapo O, Kudumula R. “Congenital cerebral ischemic lesions in monochorionic twins.” Journal of Genetic Disorders & Genetic Reports, 2013, 2:2 [2] Cecchetto G, et al. “Looking at the missing brain: Hydranencephaly case series and literature review.” Pediatric Neurology, 2013, 152-158 [3] Pavone P, et al. “Hydranencephaly: Cerebral spinal fluid instead of cerebral mantles.” Italian Journal of Pediatrics, 2014, 40:79
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ACCEPTED MANUSCRIPT
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Figure 1: T2-weighted MRI of Twin A, Transverse view with CSF and remnant of falx cerebri
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Figure 2: T1-weighted MRI of Twin B, Sagittal view with cortical absence, intact brainstem
S0887-8994(16)30238-7
DOI:
10.1016/j.pediatrneurol.2016.08.002
Reference:
PNU 8959
To appear in:
Pediatric Neurology
Received Date: 11 April 2016 Accepted Date: 4 August 2016
Please cite this article as: Huff N, Naik S, Hydranencephaly in Monochorionic-Diamniotic Twins, Pediatric Neurology (2016), doi: 10.1016/j.pediatrneurol.2016.08.002. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT
Hydranencephaly in Monochorionic-Diamniotic Twins
SC M AN U
Home Address and Phone: 3000 Staunton Ave, Apartment 26 Charleston, WV 25304 (724) 237-7194
RI PT
Lead/Corresponding author: Nicholas Huff, MD [email protected] Charleston Area Medical Center Department of Pediatrics (Resident) 800 Pennsylvania Ave Charleston, WV 25302
AC C
EP
TE D
Additional authors: Sunil Naik, MD [email protected] Charleston Area Medical Center Pediatric Neurology Suite 201, 830 Pennsylvania Avenue Charleston, WV 25302 (304) 388-6950
ACCEPTED MANUSCRIPT
Hydranencephaly in Monochorionic-Diamniotic Twins Nicholas Huff, Sunil Naik
SC
RI PT
We report monochorionic-diamniotic twin males delivered at 34 weeks gestation. Routine prenatal ultrasound at 27 weeks gestation had raised concern for alobar holoprosencephaly for both. Following spontaneous vaginal delivery, the patients were stable in the nursery and fed well. On exam, Twin A was macrocephalic, while Twin B’s head size was normal. Both had normal facies and grossly normal appearance. They were arousable, with good cry, reflexive pain withdrawal, intact eye tracking, normal tone and normal deep tendon reflexes. Physical examinations were otherwise normal. MRIs of the brain were ordered. Both images showed replacement of nearly all cerebral tissue by a single large membranous sac, consistent with hydranencephaly (See Fig. 1 and 2). The twins were discharged from the newborn nursery to hospice care. Twin A died within three weeks, while Twin B remains under hospice care. Discussion
M AN U
Hydranencephaly is a rare congenital condition in which cerebral hemispheres are absent, replaced by a large fluid-filled cyst. There is usually preservation of the deeper structures such as cerebellum, midbrain, thalami, and basal ganglia. The diagnosis may initially be overlooked due to normal appearance and behavior at birth, as brainstem functions are preserved. Eventual development of seizures and extensive neurologic deficits is expected. Survival is poor outside of infancy.1
TE D
Known associations include infections, toxins, and occlusive disease. The most commonly accepted theory for the pathophysiology of the disorder is vascular disruption of the carotid arteries.2,3 Diagnosis is usually confirmed radiologically. In contrast to alobar holoprosencephaly, there is typically an intact falx cerebri, normal thalami and unaffected facial anatomy.1
References
EP
There is an association between hydranencephaly and twin monochorionic pregnancies, in which one twin is affected following early intrauterine death of the other twin. This is a rare phenomenon. Diagnosis in a set of liveborn twins is even rarer, with only a few cases reported.
AC C
[1] Dolapo O, Kudumula R. “Congenital cerebral ischemic lesions in monochorionic twins.” Journal of Genetic Disorders & Genetic Reports, 2013, 2:2 [2] Cecchetto G, et al. “Looking at the missing brain: Hydranencephaly case series and literature review.” Pediatric Neurology, 2013, 152-158 [3] Pavone P, et al. “Hydranencephaly: Cerebral spinal fluid instead of cerebral mantles.” Italian Journal of Pediatrics, 2014, 40:79
EP
TE D
M AN U
SC
RI PT
ACCEPTED MANUSCRIPT
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Figure 1: T2-weighted MRI of Twin A, Transverse view with CSF and remnant of falx cerebri
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Figure 2: T1-weighted MRI of Twin B, Sagittal view with cortical absence, intact brainstem