Cervical diastematomyelia in a patient with Pierre-Robin syndrome – A case report

Abstract

Background:

Pierre-Robin syndrome (PRS) is a disorder characterized by mandibular hypoplasia, leading to upper airway obstruction and feeding difficulties due to backward displacement of the tongue (glossoptosis). Cervical diastematomyelia is another rare congenital condition in which the spinal cord splits into two hemicords at the level of the cervical spine.

Case Description:

We report a unique case of a 6-month-old boy who has cervical diastematomyelia and PRS. At birth, our patient had mandibular hypoplasia, respiratory distress, a posterior parietal region swelling, and reduced tone in all four limbs. On current examination, he now also has left-sided torticollis along with the findings mentioned at birth. Imaging demonstrated features consistent with an atretic parietal cephalocele, enlarged cerebellum in comparison with age-matched group, and short segment type II diastematomyelia in the proximal cervical spinal cord.

Conclusion:

In patients with these complex congenital anomalies, improving outcomes requires early detection and tailored management strategies.

INTRODUCTION

Pierre-Robin syndrome (PRS) is a congenital disorder characterized by mandibular hypoplasia resulting in backward displacement of the tongue that leads to upper airway obstruction and feeding difficulties. This was first described in 1891; however, the first case was published in 1923 by Pierre-Robin.[3] It can be due to genetic mutations or due to intrauterine growth restriction, leading to mandibular hypoplasia (micrognathia). PRS can be found in isolation or in association with other syndromes, such as stickler syndrome, Treacher Collins syndrome, or in association with other anomalies. The most common anomaly found in association with PRS is cleft palate.

Split cord malformation (SCM) or diastematomyelia refers to a congenital condition resulting in the division of the spinal cord into two hemi-cords by a bony, fibrous, or cartilaginous septum. It is also found to be associated with several malformations, such as Klippel-Feil anomaly, Arnold Chiari deformity, and myelomeningocele.[9] Most commonly diastematomyelia are found at the lumbar level. Cervical diastematomyelia itself is extremely rare with only 75 cases reported to date.[8] In this case report, we present a child with Pierre-Robin sequence and cervical diastematomyelia. To the best of our knowledge, no reported case in the literature has discussed the association of cervical diastematomyelia in patients with the Pierre-Robin sequence.

CASE REPORT

We present a 6-month-old boy with known case of PRS. He was born through C-section outside our hospital with a history of respiratory distress at birth for which he remained admitted in neonatal intensive care unit for 1 week. On examination at birth, he was found to have micrognathia and a soft-cystic swelling in the parietal region [Figure 1].

Figure 1:

(a) Front and (b) side views of the baby’s facial features, demonstrating mandibular hypoplasia (micrognathia) and neck tilted toward the left side (torticollis). (c) Back view of the baby’s head showing a rounded 3 × 3 cm swelling on the posterior parietal region, slightly left to the midline, with a tuft of hairs in the center.

He was brought to our clinic by his mother with concern about swelling on the back of his head present since birth. According to the mother, she did not notice any progression in the size of this swelling or it did not disappear at any point; however, it did increase in size when the patient cried. There was no history of any discharge, noticeable pain, or fever. On examination, he was conscious, active, and alert. His occipitofrontal circumference was 41.5 cm (10^th centile). A rounded 3 × 3 cm swelling was noted on the posterior parietal region, slightly left to the midline. The swelling was soft, cystic, compressible, non-tender, and normothermic with a tuft of hair in the center [Figure 1]. Neurological examination revealed decreased tone in all four limbs with +2 reflexes and spontaneous movement in all four limbs. Anterior fontanelle was sunken and soft and his neck was tilted toward the left side (torticollis) [Figure 1]. There was no swelling or defect seen over the spine. Ultrasound revealed a well-defined bony defect in the left parietal region containing herniation of high-density cystic fluid collection along with some soft-tissue component, hypoechoic fibrous tract, and few surrounding herniating arteries showing internal vascularity suggestive of herniating vascular channels [Figure 2]. Overall findings were suggestive of cephalocele versus atretic encephalocele. Magnetic resonance imaging (MRI) brain was done that revealed a midline high parietal subcutaneous cystic lesion following cerebrospinal fluid signals on all sequences with intracranial extension through an underlying calvarial defect, features consistent with atretic parietal cephalocele. Cerebellar hyperplasia was also seen with thickening of cortical gray matter in both cerebellar hemispheres [Figure 3].

Figure 2:

Ultrasound head showing bony defect (yellow arrow) in the left parietal region containing herniation of cystic fluid collection along with some soft-tissue component (blue arrow), and fibrous tract (red arrow). Findings suggestive of parietal atretic encephalocele.

Figure 3:

Magnetic resonance imaging brain (T2-weighted sagittal image) showing a midline high parietal subcutaneous cystic lesion following cerebrospinal fluid signals on all sequences with intracranial extension through an underlying calvarial defect. Vertically oriented persistent primitive falcine vein is identified along with an adjacent thin fibrous stalk, connecting the cephalocele through the calvarial defect. High position of the tentorium cerebelli is seen, along with cerebellar hyperplasia. Imaging features are consistent with an atretic parietal encephalocele.

An incomplete short segment division of the cord was identified just below the medulla within a single dural sac without any definite bony spur/septum representing type II diastematomyelia [Figure 4].

Figure 4:

Magnetic resonance imaging brain with craniocervical junction (a) T2-weighted sagittal, (b) T2-weighted axial, and (c) fluid-attenuated inversion recovery coronal image showing an incomplete short segment division of cervical cord just below the medulla within a single dural sac without any definite bony spur/septum (Type II diastematomyelia).

Since the patient was doing well clinically, no surgical intervention was advised for now. The mother also agreed with the management plan and was counseled to seek medical advice for any progression.

DISCUSSION

PRS is a rare congenital anomaly occurring in 1 in 8,500– 20,000 children.[7] This is not a syndrome but a sequence in which one malformation results in the sequential development of other malformations. It can be found in isolation or in association with other syndromes. The two main problems found in neonates with this sequence are airway obstruction and breathing difficulty.[5]

Cole et al. proposed a system of classification grading the severity based on the clinical examination at the time of birth, including the behavior of the tongue on oral examination, signs of respiratory obstruction, and the effect of oral feeding on these babies.[1] Grade I included babies with features of PRS but no clinical signs of respiratory distress and satisfactory feeding assessment. The parents are taught to nurse these babies side to side and to monitor their growth and weight gain. Grade 2 included babies with some intermittent signs of respiratory distress, such as inspiratory stridor. These babies are initially fed with nasogastric tube placement to avoid respiratory distress and oral feeding is introduced over a period of several weeks as the baby grows. Grade 3 included babies with signs of moderate to severe respiratory distress, such as nasal flaring, tracheal tug, and chest recession. They require relieve of airway obstruction with nasopharyngeal airway (or surgical intervention).

However, despite the current evidence, no widely accepted classification exists for symptom severity in patients with PRS. Regarding surgical management, many approaches, including mandibular traction, glossopexy, and mandibular distraction, have been suggested in the past by Longmaire, Argamasso, and Denny, respectively. Da Silva Freitas et al., in their study, showed remarkable results with conservative treatment, including prone positioning or the use of a nasopharyngeal tube to avoid airway obstruction by preventing backward displacement of the tongue.[2] The surgical options were considered in patients who failed conservative management.

SCM refers to division of spinal cord into two hemi-cords by a rigid/fibrous median septum. Pang et al. classified SCMs into two sub-types depending on the presence of one or two dural sacs and whether the dividing septum is rigid or fibrous.[6] Type I SCM refers to two hemi-cords divided by a rigid septum with each having separate dural sacs while type II SCM refers to two hemi-cords divided by a fibrous septum and enclosed in a single dural sac. A new sub-classification of type I SCMs was proposed by Mahapatra and Gupta.[4] They classified type-1 SCMs into four categories according to the intraoperative location of the bony spur that caused the split. Historically, the terms diastematomyelia and diplopia were used where diastematomyelia refers to congenital cleft or splitting of a spinal cord while diplomyelia refers to true or complete duplication of a spinal cord segment. The majority of SCMs are identified at the lumbar spine level with only a few reported cases of cervical diastematomyelia till now, accounting for only 1.6% of all cases. Based on current evidence, the role of prophylactic surgery in patients with incidental findings of diastematomyelia is controversial.[9] The decision of surgical management should be based on the clinical severity of the condition.

CONCLUSION

This child was born with multiple malformation complexes. PRS is a congenital disorder that is associated with multiple syndromes. Cervical SCM is an exceptionally rare condition, with <75 cases documented in the literature. MRI remains the investigation of choice. The controversy regarding prophylactic surgery in asymptomatic individuals with either of the conditions remains. The results of surgery in asymptomatic individuals are excellent, while those in symptomatic individuals are good as well, but the risks associated with invasive treatment are also there.

Ethical approval:

The Institutional Review Board approval is not required.

Declaration of patient consent:

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship:

Nil.

Conflicts of interest:

There are no conflicts of interest

Use of artificial intelligence (AI)-assisted technology for manuscript preparation:

The authors confirm that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.

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