Abstract

Background: Chiari I malformation (CM1) and syringomyelia can present a wide spectrum of symptoms and signs in children, often varying with age. However, the association of CM1 with dermatographia and alopecia is exceedingly rare and, to our knowledge, has not been previously reported in the pediatric population.

Case Description: We present the case of a 7-year-old boy who exhibited an unusual constellation of findings, including Horner’s syndrome, dermatographia, and patchy alopecia. Magnetic resonance imaging revealed CM1 with holocord syringomyelia.

Conclusion: This case highlights the importance of considering CM1 in the differential diagnosis of pediatric patients with unexplained dermatological and neurological findings. Early diagnosis and a multidisciplinary approach are crucial to achieving favorable outcomes.

Keywords: Alopecia, Chiari I malformation, Dermatological markers, Pediatrics, Syringomyelia

INTRODUCTION

Chiari I malformation (CM1) is a structural abnormality involving downward displacement of the cerebellar tonsils beyond the foramen magnum, affecting approximately 1% of the pediatric population.[ 1 ] This condition disrupts the normal flow of cerebrospinal fluid (CSF), potentially leading to progressive spinal cord damage, manifesting as syringomyelia in 25% of cases.[ 3 ] The clinical presentation varies with age. In infants, symptoms typically result from brainstem compression and may include apneic episodes, cyanosis, and swallowing difficulties. In contrast, scoliosis is the most common presenting feature in older children. Symptoms such as occipital headache, gait ataxia, sensory impairment, and motor weakness are infrequent in younger patients and are primarily found in adults.[ 5 ]

While the neurological manifestations of CM1 and syringomyelia are well-documented, their association with dermatological findings, such as dermatographia and alopecia, is exceedingly rare. This report describes a unique case of CM1 with holocord syringomyelia in a 7-year-old boy who presented with an atypical combination of Horner’s syndrome, dermatographia, and patchy alopecia, broadening the spectrum of CM1 presentations.

CASE PRESENTATION

A boy in middle childhood presented to our pediatric outpatient clinic with a 1-year history of left-sided hemianhidrosis and progressive weakness in the left upper and lower limbs. Clinical examination revealed scoliosis[ 2 ] with a right-sided convexity and hyperpigmentation over the right upper limb and upper trunk [ Figure 1 ]. Notable atrophy of the left upper and lower limbs was observed.

Figure 1:

Scoliosis 4 with a right-sided convexity and hyperpigmentation over the right upper limb and upper trunk.

The neurological evaluation showed decreased tone in the left upper and lower limbs, absent superficial reflexes, and exaggerated deep tendon reflexes in the same limbs. Pain and temperature sensations were diminished on the left side of the face and body below the C2 dermatome.

In addition, the patient exhibited patchy alopecia on the scalp localized to the vertex, left occipital region, right postauricular area, and posterior neck. The corresponding dermatomes are partly C2, C2 and C3, C2, C2, and C3, respectively [ Figure 2 ]. Dermatographism, characterized by erythema and wheal formation upon mechanical stimulation, was also elicited on all the limbs and torso including the areas with alopecia. The parents were unaware of the dermatographism, which was identified during the Outpatient Department examination. The other dermatological manifestations began about a year ago. This patient did not experience pruritus, and the skin and neurological symptoms appeared around the same time.

Figure 2:

Patchy alopecia on the scalp.

This unique constellation of findings, including scoliosis, autonomic dysfunction (manifested as hemi-anhidrosis), neurological deficits, dermatographism, and alopecia, warranted further investigation with magnetic resonance imaging (MRI). MRI revealed:

A peg-like, asymmetrical herniation of cerebellar tonsils (5 mm),[ 4 ] more pronounced on the left side [ Figure 3 ]

Figure 3:

(a) Peg like .asymmetrical herniation of cerebellar tonsils (5 mm), more pronounced on the left side and asymmetrical tonsillar ectopia (left > right), (b) which is better visualized on coronal T2-weighted magnetic resonance imaging.

Figure 4:

Holocord syringomyelia extending from the cervicomedullary junction to the conus medullaris.

Figure 5:

Mild cervicothoracic scoliosis with right-sided convexity.

This patient has been advised physiotherapy and he is following that. He has been referred for neurosurgery consultation for further management, as neurosurgery is not available at our hospital as of now.

DISCUSSION

This case highlights an atypical presentation of CM1 with holocord syringomyelia, dermatographism, and alopecia. While the neurological association of CM1 with syringomyelia and Horner’s syndrome is well-recognized, the concurrent presence of dermatographism and alopecia is unprecedented.

Dermatographism is mediated by local mast cell degranulation. In this patient, the autonomic dysfunction caused by the syrinx may have contributed to the dermatological manifestations. Similarly, patchy alopecia could stem from disrupted autonomic innervation or secondary vascular compromise affecting hair follicle health. These findings suggest an intricate interplay between neurological and cutaneous systems in CM1, highlighting the role of autonomic dysfunction in atypical manifestations.

The coexistence of dermatological and neurological symptoms suggests an intricate interplay between neurological and cutaneous systems, with numerous dermatomes transmitting sensory input to the brain. Alterations in the skin can sometimes serve as early indicators of underlying neurological disorders.

Recognizing these changes is essential, as they may provide critical insights into the condition’s progression and influence its prognosis.

Surgical options for CM1 aim to restore CSF flow and decompress the hindbrain. Commonly employed procedures include suboccipital craniectomy and upper cervical laminectomy, addressing both CM1 and associated syringomyelia and include pharmacological and nonpharmacological treatment, e.g., surgery, physiotherapy, and supportive care.

These findings propose a new paradigm where dermatological markers such as dermatographia and alopecia may serve as early, noninvasive indicators of underlying neurological disorders like CM1. Integrating dermatological evaluations into the standard diagnostic workup for suspected CM1 could enhance early detection, particularly in cases with subtle or nonclassical presentations.

Comprehensive diagnostic imaging and multidisciplinary management are essential to optimize outcomes and deepen our understanding of this rare association. This case calls for further research into the interplay between the autonomic nervous system and cutaneous manifestations, potentially opening new avenues for diagnosis and therapeutic interventions in CM1 and related conditions.

CONCLUSION

Chiari I malformation (CM1) can present with unusual cutaneous manifestations, highlighting the need for awareness of atypical features in pediatric cases.

The association between autonomic dysfunction and cutaneous symptoms suggests that signs like dermatographia and alopecia may serve as early, non-invasive indicators of underlying neurological conditions like CM1.

Holocord syringomyelia in CM1 can lead to a wide range of neurological and autonomic manifestations, emphasizing the importance of thorough imaging for accurate diagnosis.

Recognizing dermatological findings as potential markers of neurological disorders may enhance diagnostic precision and improve outcomes, warranting their inclusion in the routine evaluation of suspected CM1 cases.

Ethical approval:

Institutional Review Board approval is not required.

Declaration of patient consent:

The authors certify that they have obtained all appropriate patient consent.

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.

Disclaimer

The views and opinions expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Journal or its management. The information contained in this article should not be considered to be medical advice; patients should consult their own physicians for advice as to their specific medical needs.

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