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Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report

Georg Thieme Verlag KG
American Journal of Perinatology Reports
Authors:
Hajime Maeda
Hajime Maeda
Hajime Maeda
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Hayato Go at Fukushima Medical University
Hayato Go
Jun Sakuma at Fukushima Medical University
Jun Sakuma
Takashi Imamura
Takashi Imamura
Takashi Imamura
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Abstract and Figures

Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn. The patient suffered complications of cerebrospinal fluid leak and meningitis, but was successfully treated and discharged on day 86. In this case, unilateral right renal agenesis represented a significant surgical risk because failure of the remaining kidney could result in renal failure. Because congenital anomalies of the spine may be associated with malformations of the genitourinary system, and additional surgeries were necessary in our case following birth, it is very important that the presence of genitourinary malformations be evaluated.
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Myelomeningocele with Unilateral Right Renal
Agenesis: A Case Report
Hajime Maeda, MD1Hayato Go, MD, PhD1Jun Sakuma, MD, PhD2Takashi Imamura, MD, PhD1
Maki Sato, MD, PhD1Nobuo Momoi, MD, PhD1Mitsuaki Hosoya, MD, PhD1
1Department of Pediatrics, Fukushima Medical University School of
Medicine, Fukushima, Fukushima, Japan
2Department of Neurosurgery, Fukushima Medical University School
of Medicine, Fukushima, Fukushima, Japan
Am J Perinatol Rep 2018;8:e1–e3.
Address for correspondence Hajime Maeda, MD, Department of
Pediatrics, Fukushima Medical University School of Medicine,
1 Hikarigaoka, Fukushima City, Fukushima 960-1295, Japan
(e-mail: hmaeda@fmu.ac.jp).
The worldwide incidence of neural tube defects ranges from
1 to 10 per 1,000 births with similar frequencies of anence-
phaly and spina bifida.1Congenital anomalies of the spine
have been associated with malformations of the central
nervous, cardiovascular, gastrointestinal, respiratory, and
genitourinary systems.2We report a case of myelomeningo-
cele with unilateral right renal agenesis.
Case Report
The mother was a 31-year-old woman (gravida 3 para 3),
who had not taken any medications or supplements or had
poor antenatal care follow-up. Fetal ventricular enlargement
was detected at 35 weeks of gestation, and the baby was
delivered by cesarean section at 38 weeks of gestation
following detection of a Chiari malformation and myelome-
ningocele by fetal echography and magnetic resonance ima-
ging (MRI). The baby was a female and weighed 2,368 g with
an Appearance, Pulse, Grimace, Activity, and Respiration
(APGAR) score of 5 at 1 minute and 6 at 5 minutes. Endo-
tracheal intubation and mechanical ventilation were
initiated shortly after birth because of respiratory distress.
The anterior fontanelle was bulged at birth, and a large skin
defect and myelomeningocele (the defect, 10 cm 5cm)
were present on her back (►Fig. 1A). She had no motor power
in her lower extremities and had a right congenital talipes
equinovarus deformity (►Fig. 1B). Laboratory data were
normal. Serum creatinine continued to be elevated until
day 2 and spontaneously decreased afterward (►Fig. 2).
Chromosomal analysis was normal. Computed tomography
of the head and brain and spinal MRI revealed descent of not
only the cerebellar tonsil but also the structure of the
posterior fossa toward the spinal canal and small post fossa,
consistent with Chiari II malformation. Kyphosis was evi-
dent. It was difficult to identify the spinal cord in the
thoracolumbosacral re gion, and the right kidney was aplastic
Keywords
►Chiari malformation
►congenital anomalies
►genitourinary system
►myelomeningocele
►neural tube defects
Abstract Congenital anomalies of the spine may occur with malformations of the central
nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems.
This is a case of myelomeningocele with unilateral right renal agenesis in a newborn.
The patient suffered complications of cerebrospinal fluid leak and meningitis, but was
successfully treated and discharged on day 86. In this case, unilateral right renal
agenesis represented a significant surgical risk because failure of the remaining kidney
could result in renal failure. Because congenital anomalies of the spine may be
associated with malformations of the genitourinary system, and additional surgeries
were necessary in our case following birth, it is very important that the presence of
genitourinary malformations be evaluated.
received
September 29, 2017
accepted
November 19, 2017
DOI https://doi.org/
10.1055/s-0037-1615818.
ISSN 2157-6998.
Copyright © 2018 by Thieme Medical
Publishers, Inc., 333 Seventh Avenue,
New York, NY 10001, USA.
Tel: +1(212) 584-4662.
THIEME
e1
This document was downloaded for personal use only. Unauthorized distribution is strictly prohibited.
(►Figs. 3A and B). Myelomeningocele repair was performed
on day 0, with cerebrospinal fluid drainage, placing an
Ommaya reservoir, and carrying out a bilateral bipedicle
flap transfer. On day 12, the patient was extubated. On day
12, a cerebrospinal fluid leak developed; antibiotics were
initiated. On day 23, meningitis was diagnosed from the
cerebrospinal fluid. On day 24, the patient developed apnea
and endotracheal intubation and mechanical ventilation
were initiated again. On day 29, the reservoir was removed
with ventricular drainage. On day 32, the patient was extu-
bated. Because of occlusion of the external ventricular drai-
nage tube, an Ommaya reservoir was placed again on day 55,
and following confirmation that the cerebrospinal fluid was
not infected, the reservoir was removed and a ventriculo-
peritoneal shunt was inserted on day 76. The patient was
discharged on day 86.
Discussion
The risk of neural tube defects has been associated with
socioeconomic status, parental education, matern al/paternal
age and occupation, and maternal reproductive history,
including country of birth and conception, hyperthermia
during early pregnancy, hyperglycemia or diabetic obesity,
and maternal use of caffeine and medications during early
pregnancy.1Normal maternal folate status is important for
neural tube closure during embryogenesis, and increasing
folate level, significantly reduces the occurrence and recur-
rence of neural tube defect.3The patient’s mother took no
medication or supplements during pregnancy and had a low
socioeconomic status, all of which were consistent with low
maternal folate status.
Congenital anomalies of the spine have also been asso-
ciated with malformations of the genitourinary system.
Whitaker and Hunt reported that 17 of 190 patients with
neural tube defects were complicated by congenital renal
anomalies, including three with renal agenesis.4To r r e et al
reported that 3 of 283 cases of meningomyelocele were
complicated by unilateral renal agenesis.5The genitourin-
ary system and vertebral column are both of mesodermal
origin and develop during the same period of embryonic
life. During week 5 of embryogenesis, the vertebral bodies
begin to develop from the notochord, and the ureteral buds
migrate to the metanephrogenic blastema. Embryonic
injury during that stage of development can cause defects
in the vertebral column and abnormalities of the kidneys
and the urine collection system.6There have been few
reports of myelomeningocele with unilateral renal agenesis.
These two malformations may either follow different
embryonic insults, i.e., be a two-hit occurrence like the
two-hit theory of cancer, or the renal event may simply be a
rare complication. Myelomeningocele patients with
untreated urological complications exhibit vesicouteral
reflux and kidney damage.7Our patient did not have kidney
damage, but renal agenesis can result in failure of the
remaining kidney in response to external injury, inflamma-
tion, renal calculus, or tumors.8Therefore, renal agenesis
represents a significant surgical risk. Because additional
surgeries were necessary in our case, it is important to
promptly identify malformations in the genitourinary sys-
tem. The renal function of the patient is being followed
carefully after discharge.
Fig. 1 Physical findings on admission. At birth, (A) the infant had a large skin defect with a myelomeningocele (the defect, 10 cm 5cm)onher
back, and (B) she had no motor power in her lower extremities and had a right congenital talipes equinovarus deformity.
0
0.2
0.4
0.6
0.8
1
1.2
0 1020304050607080
serum creatinine (mg/dL)
day after birth (days)
Fig. 2 Serum creatinine from birth until discharge. Serum creatinine value
was 0.60mg/dL at birth and reached a maximumvalue 1.05 mg/dL on day 2,
and decreased afterward.
American Journal of Perinatology Reports Vol. 8 No. 1/2018
Myelomeningocele with Unilateral Right Renal Agenesis Maeda et al.e2
This document was downloaded for personal use only. Unauthorized distribution is strictly prohibited.
Conflict of Interest
None.
References
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aspects of spina bifida and other neural tube defects. Dev Disabil
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defectsby periconceptional vitamin supplementation. N Engl J Med
1992;327(26):1832–1835
4Whitaker RH, Hunt GM. Incidence and distribution of renal
anomalies in patients with neural tube defects. Eur Urol 1987;
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5Torre M, Guida E, Bisio G, et al. Risk factors for renal function
impairment in a series of 502 patients born with spinal dysraph-
isms. J Pediatr Urol 2011;7(01):39–43
6Vitko RJ, Cass AS, Winter RB. Anomalies of the genitour inary tract
associated with congenital scoliosis and congenital kyphosis.
J Urol 1972;108(04):655–659
7Bruschini H, Almeida FG, Srougi M. Upper and lower urinary tract
evaluation of 104 patients with myelomeningocele without ade-
quate urological management. World J Urol 2006;24(02):224–228
8MacEwen GD, Winter RB, Hardy JH. Evaluation of kidney anomalies
in congenital scoliosis.J Bone Joint Surg Am 1972;54(07):1451–1454
Fig. 3 Magnetic resonance imaging (MRI) on admission. Brain and spinal MRI revealed T1-weighted sagittal (A) descent of the cerebellar tonsil
and the structure of the posterior fossa into the spinal canal, and small post fossa, consistent with Chiari II malformation. Kyphosis was evident.
T2-weighted sagittal (B)difficulty in identifying the spinal cord in the thoracolumbosacral region, and T2-weighted axial (C)andT1-weighted
coronal (D)anaplasticrightkidney.
American Journal of Perinatology Reports Vol. 8 No. 1/2018
Myelomeningocele with Unilateral Right Renal Agenesis Maeda et al. e3
This document was downloaded for personal use only. Unauthorized distribution is strictly prohibited.
... MMC is the most common neural tube defects which occur due to improper closure of neural tube. It has been reported that the incidence of NTD varies in 1-2 per 1000 live births [21] . Patients present with various complications like lower limb weakness and loss of bladder control. ...
Impact Factor: RJIF 5.54 www.medicalsciencejournal.com Volume 4; Issue 12
Article
Full-text available
  • Dec 2018
Background: Neural tube defects are one of the most common birth defects. The most frequent forms of neural tube defects are anencephaly and myelomeningocele (Spina bifida) which occurs due to incomplete closure of neural tube at the cranial and caudal end respectively. Infants with anencephaly die in utero or are still born. Among all VANGL1 has been shown to be in close relation with the disease. The present study aimed to investigate the mutation in VANGL1 gene among Pakistani population having myelomeningocele. Material & Methods: The study was conducted among fifty diagnosed cases of myelomeningocele with age group from 0-10 years. Several anatomical patterns were analyzed like site and size of the cyst, by prenatally on ultrasound. While taking history several parameters were considered like folic acid consumption by the mothers and the consequences of the disease on siblings. Blood samples of the patients were drawn and PCR was performed for VANGL1 gene mutations were identified by DNA sequencing. Result: In this study we came across the variation of the disease which was more prevalent in males. Most common site was the lumbar region, showing the size of the cyst. On further investigation, it revealed that about 96% of mothers did not take folic acid during their pregnancy and 1.4% of patients showed positive family history having myelomeningocele. During our study we came across the rare mutation of VANGL1 in five patients. The mutations identified in VANGL1 gene which were at different substitution position of amino acid i.e. valine 239 with Phenylalanine. Conclusion: With this study we have finally concluded that in future further investigations and diagnosis for neural tube disorders should be carried out. In other cases although history revealed myelomeningocele, mutation should be identified. So keeping this point in consideration, other gene mutation should be done and more research of same area based should be carried out.
View
... MMC is the most common neural tube defects which occur due to improper closure of neural tube. It has been reported that the incidence of NTD varies in 1-2 per 1000 live births [21] . Patients present with various complications like lower limb weakness and loss of bladder control. ...
Impact Factor: RJIF 5.54 www.medicalsciencejournal.com Volume 4; Issue 12
Article
  • Dec 2018
Background: Neural tube defects are one of the most common birth defects. The most frequent forms of neural tube defects are anencephaly and myelomeningocele (Spina bifida) which occurs due to incomplete closure of neural tube at the cranial and caudal end respectively. Infants with anencephaly die in utero or are still born. Among all VANGL1 has been shown to be in close relation with the disease. The present study aimed to investigate the mutation in VANGL1 gene among Pakistani population having myelomeningocele. Material & Methods: The study was conducted among fifty diagnosed cases of myelomeningocele with age group from 0-10 years. Several anatomical patterns were analyzed like site and size of the cyst, by prenatally on ultrasound. While taking history several parameters were considered like folic acid consumption by the mothers and the consequences of the disease on siblings. Blood samples of the patients were drawn and PCR was performed for VANGL1 gene mutations were identified by DNA sequencing. Result: In this study we came across the variation of the disease which was more prevalent in males. Most common site was the lumbar region, showing the size of the cyst. On further investigation, it revealed that about 96% of mothers did not take folic acid during their pregnancy and 1.4% of patients showed positive family history having myelomeningocele. During our study we came across the rare mutation of VANGL1 in five patients. The mutations identified in VANGL1 gene which were at different substitution position of amino acid i.e. valine 239 with Phenylalanine. Conclusion: With this study we have finally concluded that in future further investigations and diagnosis for neural tube disorders should be carried out. In other cases although history revealed myelomeningocele, mutation should be identified. So keeping this point in consideration, other gene mutation should be done and more research of same area based should be carried out.
View
View
Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin Supplementation
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The risk of recurrent neural-tube defects is decreased in women who take folic acid or multivitamins containing such during the periconceptional period. The extent to which folic acid supplementation can reduce the first occurrence of defects is not known. We conducted a randomized, controlled trial of periconceptional multivitamin supplementation to test the efficacy of this treatment in reducing the incidence of a first occurrence of neural-tube defects. Women planning a pregnancy (in most cases their first) were randomly assigned to receive a single tablet of a vitamin supplement (containing 12 vitamins, including 0.8 mg of folic acid; 4 minerals; and 3 trace elements) or a trace-element supplement (containing copper, manganese, zinc, and a very low dose of vitamin C) daily for at least one month before conception and until the date of the second missed menstrual period or later. Pregnancy was confirmed in 4753 women. The outcome of the pregnancy (whether the fetus or infant had a neural-tube defect or congenital malformation) was known in 2104 women who received the vitamin supplement and in 2052 who received the trace-element supplement. Congenital malformations were significantly more prevalent in the group receiving the trace-element supplement than in the vitamin-supplement group (22.9 per 1000 vs. 13.3 per 1000, P = 0.02). There were six cases of neural-tube defects in the group receiving the trace-element supplement, as compared with none in the vitamin-supplement group (P = 0.029). The prevalence of cleft lip with or without cleft palate was not reduced by periconceptional vitamin supplementation. Periconceptional vitamin use decreases the incidence of a first occurrence of neural-tube defects.
View
Epidemiology and genetic aspects of spina bifida and other normal tube defects
Article
  • Apr 2010
  • DEV DISABIL RES REV
The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public health officials to design and implement policies to prevent NTD pregnancies, and (c) individuals to take precautions to reduce the chance of having an NTD-affected pregnancy. Despite extensive research, our knowledge of the genetic etiology of human NTDs is limited. Although more than 200 small animal models with NTDs exist, most of these models do not replicate the human disease phenotype. Over a hundred candidate genes have been examined for risk association to human SB. The candidate genes studied include those important in folic acid metabolism, glucose metabolism, retinoid metabolism, and apoptosis. Many genes that regulate transcription in early embryogenesis and maintain planar cell polarity have also been tested as candidates. Additionally, genes identified through mouse models of NTDs have been explored as candidates. We do not know how many genes in the human genome may confer risk for NTDs in human. Less than 20% of the studied candidate genes have been determined to confer even a minor effect on risk association. Many studies have provided conflicting conclusions due to limitations in study design that potentially affect the power of statistical analysis. Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs.
View
Risk factors for renal function impairment in a series of 502 patients born with spinal dysraphisms
Article
  • Apr 2010
To evaluate the risk of renal damage in a large series of patients affected by spinal dysraphism. Renal function was studied in 502 spinal dysraphisms treated over the last 25 years in a single center: 283 meningomyelocele (MMC), 90 caudal regression syndrome (CRS) and 129 spinal lipoma (SL) cases. In patients with normal and impaired renal function, we compared congenital renal anomalies, vesicoureteric reflux, bladder voiding pattern and upper tract dilatation, analyzing the results with the Fisher test. Neuropathic bladder was observed in 97% of MMC, 60% of CRS, and 39% of SL cases. There was some degree of renal function impairment in 19 MMC (6.7%), 11 CRS (12%, increased to 20% if considering only neuropathic bladder patients), and two SL (1.5%) cases. Renal agenesis was more frequent in CRS (13%), but was not associated with decreased renal function. Overall, vesicoureteric reflux and upper tract dilatation were more frequent in patients with renal damage. Insufficient bladder voiding was statistically associated with renal damage only in the CRS population. Intermittent catheterization did not represent a protective factor against renal damage in patients able to void without significant residual urine. This study has increased our understanding of the prognostic risk factors for renal deterioration. More prospective studies are necessary to confirm these results and correlate treatment with renal outcome.
View
Incidence and Distribution of Renal Anomalies in Patients with Neural Tube Defects
Article
  • Feb 1987
In 190 patients with neural tube defects the sensory levels to pin prick were compared with the incidence and distribution of congenital renal anomalies. 17 such anomalies comprised 3 examples of renal agenesis, 5 horseshoe kidneys, 8 ureteral duplications and one simple ureterocele. The pattern of anomalies showed that renal agenesis was associated with a sensory level in the dermatomes T5-8, horseshoe kidneys with T9-L1 and duplications predominantly with the sacral dermatomes.
View
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Evaluation of Kidney Anomalies in Congenital Scoliosis
Article
  • Nov 1972
Dr. G. Dean MacEwen's (Fig 1) classic article published here brought to the attention of the orthopaedic community the relationship between congenital spinal deformities and congenital renal abnormalities. Dr. MacEwen and his co-authors, Drs. Winter and Hardy, assembled a large group of patients (n = 231) with anomalies such as hemivertebrae and congenital rib fusions, and with appropriate studies they showed the high prevalence of renal abnormalities in these individuals. One third of these patients had unilateral renal agenesis. Other anomalies included Ureteropelvic duplications and congenital hydronephrosis. Dr. MacEwen and his co-authors showed the importance of considering the possibility of Such a relationship before undertaking surgical treatment of congenital scoliosis and kyphosis. In fact, they urged spine surgeons to obtain a baseline intravenous pyelogram in all patients with congenital spinal deformities. This paper, however, is only one of a number of classic contributions made by Dr. MacEwen to the orthopaedic literature. Indeed, the Journal of Bone and Joint Surgery recently republished one of Dr. MacEwen's papers that originally appeared in 1976: Congenital Dislocation of the Hip: Use of the Pavlik Harness in the Child During the First Six Months of Life.(1) That seminal paper changed the way orthopedists have treated developmental dysplasia of the hip in infants and it provided logical reasons for adopting the newer method. The many classic papers by Dr. MacEwen including the two just mentioned represent an extraordinary opus and important lifetime contributions to the practice of orthopaedic Surgery. Dr. MacEwen was born November 10, 1927. He spent much of his career at the Alfred I. duPont Institute in Wilmington, Delaware (25 years, in fact). He also has served at the Children's Hospital in New Orleans and currently practices at the Philadelphia Shriners Hospital. He finished medical school at Queen's University in Kingston, Ontario in 1953 and did his orthopaedic residency in orthopaedics at the Campbell Clinic in Germantown, Tennessee 1958. He lives in the historic town of New Castle, Delaware.
View
Association of Congenital Anomalies of the Spine and Kidneys
Article
  • Jun 1980
Specific congenital malformations of the spine are consistently associated with characteristic types of urinary tract malformation. Patients with defects of the spine such as spina bifida occulta, partial or complete absence of the sacrum, unilateral or bilateral failure of segmentation, and wedged vertebrae are not usually associated with congenital urinary tract malformations. Spina bifida and myelomeningocele have a low incidence of urinary tract abnormalities (2.1% in this study). If there are other spine abnormalities associated with spina bifida, the incidence or urinary abnormalities increase 10 times. However, hemivertebrae occurring alone in patients or occurring in conjunction with other anomalies of the spine, are most frequently associated with urinary tract abnormalities (66%). Hemivertebrae of the low cervical and upper thoracic spine carries the highest incidence of associated urinary tract malformation.
View
Upper and lower urinary tract evaluation of 104 patients with myelomeningocele without adequate urological management
Article
  • Jun 2006
To evaluate the upper and lower urinary tract and revise the urodynamic parameters on myelomeningocele patients without adequate urological management. 104 myelomeningocele patients without previous adequate urological management were assessed by clinical, urodynamic and imaging evaluation. The urodynamic.data were correlated with the status of the upper urinary tract (UUT). Thirty patients presented with vesico-ureteral reflux. Six patients presented signs of UUT damage without reflux. The cystometry showed detrusor overactivity (DO), poor compliance, increased bladder capacity and normal cystometry in 48, 49, 2 and 1% of the patients, respectively. Detrusor leak point pressure (DLPP) over 40 cm H(2)O was associated with UUT damage. Patients with decrease on functional bladder capacity (FBC) <or= 33% had more renal scars than their counterparts (P = 0.01). Overall, urological untreated myelomeningocele patients have 26% of kidney damage. DLPP >or= 40 cm H(2)O and decrease in FBC <or= 33% are associated with greater UUT damage. DO and poor compliance are predominant and pose similar risk of UUT damage.
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