Delayed Presentation of Diencephalic-Mesencephalic Junction Dysplasia With Compulsive Truncal Movements and Blepharospasm: A Case Report From India

Pavankumar Katragadda; Gorantla Padmasri; Karthik Kulanthaivelu; Ravi Yadav

doi:10.14802/jmd.25167

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Letter to the editor Delayed Presentation of Diencephalic-Mesencephalic Junction Dysplasia With Compulsive Truncal Movements and Blepharospasm: A Case Report From India: Pavankumar Katragadda¹, Gorantla Padmasri², Karthik Kulanthaivelu², Ravi Yadav¹; Journal of Movement Disorders 2026;19(2):208-211.
DOI: https://doi.org/10.14802/jmd.25167
Published online: August 5, 2025

¹Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India

²Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India

Corresponding author: Ravi Yadav, MD, DM Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore 560029, Karnataka, India / Tel: +91-80-2699514 / E-mail: docravi20@yahoo.com

• Received: June 28, 2025 • Revised: July 31, 2025 • Accepted: August 4, 2025

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Supplementary Materials
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REFERENCES

Dear Editor,

Diencephalic-mesencephalic junction dysplasia (DMJD) is a rare congenital midbrain-hindbrain malformation caused by an early anterior-posterior patterning defect during embryonic development. This defective anteroposterior patterning leads to caudal expansion of the diencephalon and the development of an aberrant short-thick midbrain in DMJD [1,2]. Three types of DMJD patterns have been described based on the anatomic level of diencephalon involvement (hypothalamus or thalamus) and the degree of separation between the diencephalon and the mesencephalon: Type A, with hypothalamic-mesencephalic continuity; Type B, with incomplete thalamic-mesencephalic cleavage; and Type C, with complete or near complete thalamic-midbrain union. The specific causative gene mutation is unclear, but associations include mutations in PCDH12, L1CAM, FOXA2, and VRK1 [3]. DMJD usually presents in infancy or early childhood with facial dysmorphism, global developmental delay, spastic quadriparesis and seizures [4]. However, Type B DMJD can have a delayed presentation in adult life. Cognitive impairment, headache, cranial nerve involvement, pyramidal tract signs, ataxia and complex motor tics have been reported in cases of adult-onset DMJD [5-7]. We present a case of DMJD with adult-onset compulsive truncal flexion movements, blepharospasm and cognitive behavioral symptoms, along with imaging features consistent with Type C DMJD.

A 35-year-old man with normal development presented with an insidious onset of difficulty opening his eyes and excessive blinking, which began at the age of 33. He had to make several attempts to open his eyes, sometimes using a sensory trick that involved gently touching his eyelids. Six months later, he started having repetitive truncal movements characterized by bending forward at the trunk and rubbing his palms over his thighs and legs. These movements were frequent throughout the day, but they used to subside during sleep. When asked about why he was doing these truncal movements, he described an urge to do these movements, followed by relief from back stiffness. There were no obsessive thoughts that triggered these movements or were relieved by them. After developing motor symptoms at 33 years of age, he became withdrawn and interacted less with his family. Over the next year, he lost interest in daily activities and stopped going to work. He had a history of seizures in childhood. He had no significant family history and was not receiving medication prior to the onset of these movements.

His neurological examination revealed blepharospasm and frequent stereotypical hyperkinetic movements characterized by forward flexion of the trunk with flexion at the hip and rubbing of the palms over the thigh and legs. These movements were noted in both the sitting and standing positions, and the patient could transiently suppress them. There was no variability, distractibility or suggestibility. Based on phenomenology, we considered the possibility of compulsive behavior and complex motor tics. Overall, we felt that these movements were more consistent with compulsions. The rest of the examination was normal. Clinical examination findings are provided in the Supplementary Videos 1 and 2 (in the online-only Data Supplement). Detailed neuropsychological evaluation revealed impairments in sustained attention, verbal and category fluency, and response inhibition.

Routine blood investigations, metabolic profile and cerebrospinal fluid (CSF) analysis with opening pressure were normal. EEG was within normal limits. Brain MRI revealed complete thalamic mesencephalic fusion with an ill-defined diencephalic mesencephalic junction (DMJ) with an anteroposteriorly elongated, butterfly-shaped midbrain showing a prominent ventral cleft continuous with the third ventricle. Other imaging abnormalities noted included drooping of the posterior corpus callosum, small caudate nuclei, dysplastic pons, mild cerebellar atrophy, an abnormal kink at the bulbo-medullary junction, and the wrapping of optic tracts around the midbrain. On diffusion tensor imaging, there was discontinuity of the corticospinal tract (CST) at the midbrain and ventral pons levels, with abnormal tracking along the dorsal aspect of the pons. These radiological features were consistent with Type C DMJD. The MRI findings are provided in Figure 1. He was treated with fluoxetine and clonazepam, and botulinum toxin was administered for blepharospasm. We followed the patient for 6 months. He received botulinum toxin twice 3 months apart and responded well. However, he had only partial improvement in truncal movements. The patient was lost to follow-up after 6 months.

Adulthood presentation of DMJD is rare, and very few cases have been described in the literature [5,7]. In addition to the delayed presentation of congenital condition, our patient also presented with distinct clinical features: blepharospasm and compulsive truncal flexion movements. It may not be surprising to see movement disorders in DMJD, given the involvement of the thalamus, midbrain, and basal ganglia. Although blepharospasm was not reported earlier in DMJD, it has been observed in individuals with lesions in the rostral brain stem and DMJ [8]. The blepharospasm in our patient may have been due to the rostral brainstem and DMJ involvement affecting supranuclear control, leading to altered sensitization and plasticity in the trigeminal and facial nuclear complex [9]. Flexion movements of the trunk with similar phenomenology have been reported in patients with brain sagging syndrome due to intracranial hypotension, and the acronym compulsive repetitive flexion with breath holding in sagging brain syndrome (CoRFBiS) has been used [10,11]. In our patient, the CSF opening pressure was normal, thus a deformed diencephalon, midbrain and pons were the common denominators in both conditions. Although the underlying etiology differs in these conditions, the morphology and imaging appearance of the diencephalon and rostral brain stem are similar. Thus, the diencephalon and rostral brain stem seem to play significant roles in the generation of these movements. Abnormal development of the thalamus and basal ganglia in our patient would have altered cortico-basal ganglia-thalamic connectivity, leading to these movements and cognitive and behavioral changes [12].

In our patient, imaging revealed complete thalamic mesencephalic fusion in the sagittal plane, ventral midbrain cleft and brainstem kink, which were consistent with Type C DMJD as recently described by Lawrence et al. [3]. In addition to DMJ abnormalities, our patient had abnormalities in the basal ganglia, pons, cerebellum, CST, and bulbo-medullary junction. Zaki et al. [1] and Severino et al. [4] also described these associated abnormalities in DMJD. Discontinuity of the CST could be due to defective axon guidance [1]. Most of the adult cases described previously had imaging features of Type B DMJD.

Our case expands the clinical phenotype and spectrum of movement disorders associated with DMJD and contributes to the literature on newly described Type C DMJD. Additionally, our case provides insight into the neuroanatomical correlates of compulsive repetitive truncal flexion.

Supplementary Materials

The online-only Data Supplement is available with this article at https:// doi.org/10.14802/jmd.25167.

Video 1.

Video of the patient demonstrating blepharospasm with a geste antagoniste.

Video 2.

Video of the patient demonstrating compulsive flexion movements of the trunk characterized by stereotypical forward flexion of the trunk and rubbing of the palms over the thigh and legs.

Notes

Ethics Statement

NIMHANS Ethics Committee approval waiver was obtained for this publication (NIMHANS/13/53rd IEC [BS & NS DIV]/2025). The video of the patient was taken after written informed consent.

Conflicts of Interest

The authors have no financial conflicts of interest.

Funding Statement

None

Acknowledgments

None

Author Contributions

Conceptualization: Pavankumar Katragadda, Gorantla Padmasri, Ravi Yadav. Data curation: Pavankumar Katragadda, Gorantla Padmasri. Formal analysis: Pavankumar Katragadda, Ravi Yadav. Investigation: Pavankumar Katragadda, Gorantla Padmasri. Methodology: Pavankumar Katragadda, Gorantla Padmasri. Project administration: Ravi Yadav, Karthik Kulanthaivelu. Resources: Pavankumar Katragadda, Gorantla Padmasri. Supervision: Ravi Yadav, Karthik Kulanthaivelu. Validation: Ravi Yadav, Karthik Kulanthaivelu. Visualization: Pavankumar Katragadda, Gorantla Padmasri. Writing—original draft: Pavankumar Katragadda, Gorantla Padmasri. Writing—review & editing: Ravi Yadav, Karthik Kulanthaivelu.

Figure 1.

T2 axial images (A-D) showing dorsoventral elongation of the midbrain with a deep ventral cleft, resulting in a butterfly appearance. T2 sagittal (E) and postcontrast T1 sagittal (F) images showing fusion of the diencephalon and mesencephalon. Other findings included a small posterior fossa, drooping of the posterior callosum (green arrow), dysplastic pons and an abnormal kink at the cervical-medullary junction (blue arrow). T2 coronal (G) images showing mild hypoplasia of the bilateral caudate nuclei and postcontrast T1 axial (H) images showing bilateral optic tracts wrapped around the midbrain (green arrow). Diffusion tensor imaging color-coded maps showing non-delineation of corticospinal tracts (blue color) at the midbrain level and ventral pons with an abnormal dorsal course within the pons (K, L) compared with a normal patient (I, J).

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