Low back pain and its different clinical varieties of presentation continue to be a very prevalent disease in the general population. Lumbar spinal stenosis affects about 50% of the population over 60 years of age and neurogenic claudication is described among its clinical characteristics. The classic description of neurogenic claudication is often attributed to Jean Jules Dejerine in 1911. However, this description corresponds to another symptomatology and disease. In his classic presentation, he describes intermittent claudication of the spinal cord as a spinal cord syndrome associated with spasmodic (spastic) paraplegia. He first presents the clinical case of a 37-year-old patient who consulted for having a sensation of weight and sudden weakness in the left leg that appears only after walking a certain distance. The osteotendinous reflexes are increased, the plantar response is extensor (Babinski and Oppenheim positive) and is accompanied by alteration in the urinary and fecal sphincters (retention). Dejerine describes that the cause of intermittent claudication of the spinal cord is syphilitic myelitis. The aim of this paper is to present a historical review of the classic Dejerine study and to differentiate the description made in his article (Intermittent Claudication of the Spinal Cord) from the one that is currently clinically associated with lumbar spinal stenosis.

KBG syndrome is a rare, autosomal dominant neurodevelopmental disorder characterized by developmental delay, macrodontia, distinctive facial features, and a range of systemic manifestations. We report a pediatric patient with a history of global developmental delay, autism spectrum disorder, sensorineural hearing loss, and spastic diplegia who developed episodic, unilateral dystonic spells beginning at age 7, leading to impaired mobility. Initial genetic testing revealed a maternally inherited 3p26 duplication, which did not fully account for the patient's clinical presentation. Whole exome sequencing (WES) was subsequently performed and identified a pathogenic frameshift mutation in ANKRD11, confirming a diagnosis of KBG syndrome. Additional genetic variants were found in CDH23, potentially explaining the patient's profound hearing loss. After receiving a diagnosis, the patient received multidisciplinary care including intensive speech, occupational, physical, applied behavior analysis therapies, and educational planning to address his neurodevelopmental needs. WES established a unifying diagnosis that better accounted for the patient's constellation of findings. Recognition of KBG syndrome facilitated appropriate medical, rehabilitative, and educational interventions. The presence of paroxysmal dystonia, previously unrecognized in KBG syndrome, adds to the expanding phenotypic spectrum. This case underscores the diagnostic value of WES in patients with complex neurodevelopmental presentations and unexplained movement disorders. Our findings support the inclusion of ANKRD11 in the differential for pediatric dystonia and suggest a potential, previously underrecognized neurologic feature of KBG syndrome. Broader access to genomic diagnostics may reduce the diagnostic odyssey for similar patients and inform more targeted care strategies. Free sialic acid storage disorder (FSASD) is a spectrum of neurodegenerative phenotypes resulting from increased lysosomal storage of free sialic acid. Less severe FSASD (historically called Salla disease) is characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Severe FSASD (historically referred to as infantile free sialic acid storage disease, or ISSD) is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood. The diagnosis of FSASD is established in a proband by identification of biallelic pathogenic variants in SLC17A5 by molecular genetic testing. Treatment of manifestations: Management is symptomatic and supportive: standard treatment of seizures; developmental and educational support; rehabilitation to optimize mobility; supplementation of calcium and vitamin D for low bone density; feeding therapy and provision of adequate nutrition; treatment of ophthalmologic manifestations per ophthalmologist with low vision services as needed; treatment of cardiomegaly per cardiologist; treatment of nephropathy / nephrotic syndrome per nephrologist; surgical treatment of hernia as needed; family and social support. Surveillance: Assessment of seizures, other neurologic manifestations, development, mobility, growth, nutrition, feeding, respiratory status, and family needs at each visit. Annual ophthalmology exam in those with intermediate or severe FSASD. Annual EKG and echocardiography to assess for cardiomegaly. Annual urinalysis for proteinuria. FSASD is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an SLC17A5 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the SLC17A5 pathogenic variants have been identified in an affected family member, molecular genetic carrier testing and prenatal/preimplantation genetic testing are possible. PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the clinical manifestations are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate features of the disease. The diagnosis of a PLP1-related disorder is established in a male proband by identification of a hemizygous pathogenic variant involving PLP1. The diagnosis of a PLP1-related disorder is usually established in a female with neurologic signs, a family history of a PLP1-related disorder, and a heterozygous pathogenic variant in PLP1 identified by molecular genetic testing. Treatment of manifestations: A multidisciplinary team comprising specialists in neurology, physical medicine, orthopedics, pulmonary medicine, and gastroenterology is optimal for care. Treatment may include respiratory support as needed; gastrostomy for individuals with severe dysphagia; routine management of spasticity including physical therapy, exercise, medications (baclofen, diazepam, tizanidine), orthotics, and surgery for joint contractures; anti-seizure medication for seizures; developmental, educational, and neurobehavioral support; physical and occupational therapy for ataxia with adaptive devices as needed; individuals with scoliosis benefit from proper wheelchair seating and physical therapy; surgery may be required for severe scoliosis; management of ocular manifestations as per ophthalmology; management of spastic urinary bladder as per urology; treatment of osteopenia as per endocrinologist. Surveillance: Growth, nutrition, and feeding assessment at each visit; neurologic evaluation for weakness, hypotonia, spasticity, ataxia, and ambulation every six to 12 months; EEG as needed; developmental and educational assessment every six to 12 months in children and adolescents; cognitive assessment every six to 12 months in older individuals; orthopedic assessment of scoliosis, contractures, presence of joint dislocations, and physical medicine, occupational and physical therapy assessment of mobility and self-help skills every six to 12 months; assess for low bone density as needed; ophthalmologic evaluation to assess for nystagmus and visual impairment as recommended by ophthalmology; assess for urinary dysfunction as recommended by urology; assess family and social work needs. Agents/circumstances to avoid: Elevated body temperature, as with fever, may cause neurologic manifestations to transiently worsen. PLP1-related disorders are inherited in an X-linked manner. De novo pathogenic variants have been reported. The risk to sibs of a male proband depends on the genetic status of the mother: if the mother of the proband has a PLP1 pathogenic variant, the chance of transmitting the pathogenic variant in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant may be asymptomatic or manifest mild-to-moderate signs of the disorder. Heterozygous female sibs are more likely to develop neurologic signs if the phenotype in affected males is relatively mild. Once the PLP1 pathogenic variant has been identified in an affected family member, heterozygote detection and prenatal and preimplantation genetic testing are possible.

Heterotopic calcification (HC) is a rarely reported pathology of aberrant bone deposition in extraskeletal tissue, most commonly outside of the central nervous system. While some of these findings may be incidental and asymptomatic, patients with symptomatic cord compression due to HC require consideration for expedited surgical intervention. We present the first described pediatric case of HC of the cervical spine causing spinal cord compression in a patient presenting with acute weakness and paresthesias following a minor trauma. An 11-year-old male with a history of long-standing spastic hemiplegia thought to be related to perinatal hypoxia presented acutely myelopathic after a minor trauma. Imaging revealed an extradural calcification of the upper cervical spine with severe spinal cord compression and a focal kyphotic deformity, considered most likely to represent a calcified meningioma, nerve sheath tumor, or heterotopic calcification. The patient was taken for decompression, mass resection, and laminoplasty, with final pathology revealing heterotopic calcification. While HC can develop after traumatic insult, or as late sequelae of spontaneous hemorrhage or infection, involvement of the cervical spine in a child has not previously been reported. In the setting of severe spinal cord compression with motor deficits, decompression and complete resection are safe and feasible. Histological analysis of HC will demonstrate a zonal arrangement of peripheral spindle cells/fibrous tissue, myxoid/cartilaginous tissue, and an inner core of ossification. Close attention should be paid in infancy when there may be an unclear diagnosis for weakness or spasticity without full imaging of the neuroaxis.

The case describes a 10-year-old female patient admitted to the Developmental Neurology Clinic due to gait disturbances and lower limb muscle weakness of sudden onset. Neurological examination revealed features of pyramidal syndrome, including hyperreflexia in the lower limbs, spastic paraparesis, and a left-sided Babinski sign. Magnetic resonance imaging findings indicated a pathological fracture of the thoracic 6 vertebral body and a solid pathological lesion at the T5, T6, T7 level. Chest computed tomography identified pathological lymph nodes in the mediastinum. Differential diagnosis for Pott's disease and malignancy was recommended. Histopathological biopsy of the pathological mediastinal lymph nodes ruled out neoplastic changes. Due to suspected tuberculosis infection, a QuantiFERON-TB test was performed, which returned positive. Based on the overall clinical presentation, imaging, laboratory, and microbiological findings the patient was diagnosed with tuberculosis and started on pharmacological treatment. Neurosurgical consultation led to the decision to proceed with surgical stabilization of the vertebrae. Opis przypadku dotyczy 10-letniej pacjentki przyjętej do Kliniki Neurologii Rozwojowej z powodu zaburzeń chodu i nagłego osłabienia mięśni kończyn dolnych. Badanie neurologiczne wykazało cechy zespołu piramidowego, w tym wzmożone odruchy głębokie w kończynach dolnych, niedowład spastyczny oraz objaw Babińskiego po stronie lewej. Wyniki obrazowania metodą rezonansu magnetycznego wskazywały na złamanie patologiczne trzonu kręgu piersiowego Th6 oraz lite zmiany patologiczne w zakresie kręgów Th5, Th6 i Th7. Tomografia komputerowa klatki piersiowej ujawniła patologiczne węzły chłonne w śródpiersiu. Zalecono przeprowadzenie diagnostyki różnicowej w kierunku choroby Potta i choroby nowotworowej. Badanie histopatologiczne bioptatu patologicznych węzłów chłonnych śródpiersia wykluczyło zmiany nowotworowe. Ze względu na podejrzenie zakażenia gruźliczego wykonano test QuantiFERON-TB, który dał wynik dodatni. Na podstawie całościowego obrazu klinicznego, wyników obrazowania, badań laboratoryjnych i mikrobiologicznych pacjentce postawiono rozpoznanie gruźlicy i rozpoczęto leczenie farmakologiczne. Konsultacja neurochirurgiczna doprowadziła do podjęcia decyzji o przeprowadzeniu zabiegu stabilizacji kręgosłupa.

Copper deficiency is a rare but reversible cause of myeloneuropathy, often overlooked in patients presenting with progressive neurological deficits. Excessive zinc intake, particularly from denture adhesives, can lead to copper depletion through competitive inhibition of intestinal absorption. We present the case of a 63-year-old female with a history of chronic obstructive pulmonary disease (COPD), Stage IIIA triple-negative breast cancer (TNBC) (status post mastectomy with adjuvant therapy), peripheral neuropathy, and a prior cecal adenoma who was admitted for hematochezia and progressive generalized weakness over several weeks. Imaging revealed a suspicious 1.4 cm pulmonary nodule in the left lower lobe and a 2.6 cm x 1.8 cm x 1.5 cm destructive lytic lesion in the left parietal bone. Given her worsening lower extremity weakness, concern for a paraneoplastic syndrome prompted a lumbar puncture and paraneoplastic antibody panel, both of which were negative. The patient underwent a five-day course of intravenous immunoglobulin (IVIG) without improvement. Further metabolic workup revealed profound copper deficiency of 417 µg/L (reference range: 810-1,990 µg/L). Upon further questioning, the patient reported chronic use of zinc-containing denture adhesive. She was initiated on copper supplementation with significant neurological improvement over several months, transitioning from being wheelchair bound to ambulating with a walker. Pathology from resection of the skull lesion revealed a World Health Organization (WHO) grade 1 meningioma, while the lung lesion was treated with CyberKnife, confirming Stage IA squamous cell carcinoma. This case highlights the importance of considering nutritional deficiencies in patients with symptoms of progressive myeloneuropathy, such as gait disturbances, sensory ataxia, or spasticity, particularly in those with risk factors such as chronic denture adhesive use. Clinicians should maintain a high index of suspicion for copper deficiency in cases mimicking paraneoplastic syndromes.