Eight years of follow-up after laminectomy of calcium pyrophosphate crystal deposition in the cervical yellow ligament of patient with Coffin–Lowry syndrome

Morino, Tadao; Ogata, Tadanori; Horiuchi, Hideki; Yamaoka, Shintaro; Fukuda, Mitsumasa; Miura, Hiromasa

doi:10.1097/md.0000000000004468

Cited by 11 publications

(12 citation statements)

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“…It may cause neural axis abnormalities and in the most severely affected cases paralysis. Morino et al 7 reported an improvement in neurological function after early laminoplasty at just two weeks and long-term continued ambulation. Therefore, it appears that the detection and early treatment of these abnormalities is imperative.…”

Section: Discussionmentioning

confidence: 98%

“…Winter et al 15 found that thoracic lordosis in patients with AIS significantly impacted their pulmonary function. Multiple recent studies 7 , 10 , 13 have shed light on the effect of these deformities on pulmonary and cardiac function. Bronchial torsion occurs as a result of thoracic kyphoscoliosis, 10 airway compression will occur with thoracic scoliosis, 7 and lordoscoliosis has been associated with both intrathoracic airway compression 13 and extrinsic bronchial obstruction.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to calcifications, Hunter et al 4 found an eight-fold and five-fold increase in the hexuronate content compared with the peripheral area of the CLS patient and the AIS patient with normal ligamentum flavum. Morino et al 7 analyzed ligamentum flavum removed at decompression in CLS patients and confirmed calcification (with calcium pyrophosphate and tricalcium phosphate crystals identified). This is quite concerning because, while it is not uncommon to develop calcifications, secondary to chondrocyte hypertrophys and shrinkage of the elastic fibres in the ligamentum flavum, this is primarily seen in the elderly, 13 tends to be more peripherally located and is thus less likely to cause cord compression.…”

Section: Introductionmentioning

confidence: 93%

“…The literature has reported that up to 47% of patients develop some degree of kyphoscoliosis. 7 In his review article on CLS, Hanauer proposed that the osseous changes in association with the ligamentous laxity may contribute to the progression of both the kyphosis and the kyphoscoliosis. 8 In 1990, Padley et al 9 described the radiographic findings associated with CLS.…”

Section: Introductionmentioning

confidence: 99%

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The natural history of spinal deformity in patients with Coffin-Lowry syndrome

Welborn

Farrell

Knott

et al. 2018

Journal of Children's Orthopaedics

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PurposeLittle is known about the natural history of spinal deformities in Coffin-Lowry syndrome (CLS). Our goal was to evaluate the spinal deformity progression and clinical impact.MethodsIn this institutional review board-approved study, we performed a multinational retrospective review of six male CLS patients, aged 13 to 22 years at final follow-up, for a mean of 7.25 years (3 to 13).ResultsAll showed delayed skeletal maturity. Three had calcifications of their lower cervical ligamentum flavum, all experienced neural axis abnormalities, including lower extremity weakness, numbness and tingling and in one, quadriparesis. Only two were ambulatory at final follow-up.All had significant spinal abnormalities, including severe progressive thoracic lordosis, thoracolumbar kyphosis and scoliosis. All had undergone spinal fusion or were being evaluated for surgery.ConclusionCLS is a rare X-linked mutation in the RSK2 gene, affecting between 1/50 000 to 100 000 people. There are two reports in the literature of patients with calcifications of their ligamentum flavum. Both had neural axis abnormalities and one had acute onset quadriplegia. Analysis of their ligamentum flavum found abundant central calcifications. Despite our small cohort we found 50% had calcifications and 100% had neurologic consequences associated with those calcifications. There was a 100% rate of deformity progression.They all exhibited delay in skeletal maturity, which mandates longer follow-up and has implications for surgical planning.From our cohort and literature review, the natural history of CLS supports frequent patient evaluation and a lower threshold for correction of spinal deformities. Aiming to avoid spinal cord compression and improve or avoid neurological deterioration.Level of EvidenceIV - retrospective study

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

The natural history of spinal deformity in patients with Coffin-Lowry syndrome

Welborn

Farrell

Knott

et al. 2018

Journal of Children's Orthopaedics

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“…At the age of 14 years, the patient gradually developed quadriplegia because of cervical cord compression induced by the forward shift of the atlas and calcification of the yellow ligament, and he experienced difficulty in walking. The patient underwent laminectomy of the 1st–7th cervical vertebrae under general anesthesia at the age of 15 years [ 10 ] ; however, laminectomy did not resolve his symptoms consistently, that is, his symptoms relapsed and remitted.…”

Section: Case Reportmentioning

confidence: 99%

Perioperative management of a patient with Coffin–Lowry syndrome complicated by severe obesity

et al. 2017

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Rationale:Coffin–Lowry syndrome (CLS) is a rare inherited disease with specific clinical features, such as mental retardation, facial dysmorphism, and cardiac abnormality. In particular, the characteristic facial features of CLS, including retrognathia and large tongue, are associated with difficult ventilation and/or intubation, which is a serious problem of anesthesia management. However, case reports on anesthesia management of CLS are very limited as there are only two published English reports till date. In this case report, we discuss anesthetic and postoperative considerations in patients with CLS, focusing on difficult airway management, and summarize past reports including some Japanese articles.Patient concerns:A 25-year-old man with CLS was planning to undergo laminectomy because of progressive quadriplegia caused by calcification of the yellow ligament. We suspected difficulty in airway management because of several factors in his facial features, short thyromental and sternomental distances in computed tomography, severe obesity, and sleep apnea syndrome.Diagnoses:Difficult airway was suspected. However, because of mental retardation, awake intubation was considered difficult.Interventions:We selected bronchofiberscope-guided nasotracheal intubation, maintaining spontaneous breathing under moderate sedation with a propofol target-controlled infusion.Outcomes:Airway management was safely performed during anesthesia induction.Lessons:In many patients with CLS, difficult intubation was reported, and sedation or slow induction maintaining spontaneous breathing was mainly selected for anesthesia induction. Spontaneous breathing should be maintained during anesthesia induction in case of CLS patients.

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