Variation of Muscular Structure in Congenital Insensitivity to Pain and Anhidrosis

Shorer, Zamir; Shaco-Levy, Ruth; Pinsk, Vered; Kachko, Leonid; Levy, Jacov

doi:10.1016/j.pediatrneurol.2012.12.015

Cited by 4 publications

(3 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The insensitivity to pain leads to multiple accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis, at times requiring limb amputation [7] as we observed in our patient. On the other hand the close relationship between longstanding infections including osteomyelitis and amyloidosis has been well described in literature [8] [9].…”

Section: Discussionsupporting

confidence: 71%

Renal Amyloidosis Following Chronic Osteomyelitis in a Patient with Congenital Insensitivity to Pain and Anhidrosis

Yavuz¹,

Ece²

2014

OJPed

View full text Add to dashboard Cite

Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual disability. Self mutilating behaviors lead to accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis. In pediatrics, amyloidosis usually occurs secondary to chronic inflammatory diseases. The coexistence of amyloidosis and CIPA has not previously been reported in literature. A CIPA case complicated with nephrotic syndrome and renal amyloidosis following chronic osteomyelitis is presented here. This report emphasizes the importance of close follow-up of patients by urine analysis for the risk of developing amyloidosis particularly in the presence of chronic infections.

show abstract

Section: Discussionsupporting

confidence: 71%

Renal Amyloidosis Following Chronic Osteomyelitis in a Patient with Congenital Insensitivity to Pain and Anhidrosis

Yavuz¹,

Ece²

2014

OJPed

View full text Add to dashboard Cite

show abstract

“…However, stimulatory and synchronizing effects of catecholamines, epinephrine and norepinephrine, on muscle contraction and quantal release (Kuba 1970 ; Khuzakhmetova and Bukharaeva 2021 ; Bukharaeva et al 2021 ) suggested a function of sympathetic innervation in skeletal muscle and potentially at the NMJ. Further, several different autonomic disorders, such as congenital insensitivity to pain (Shorer et al 2013 ), adrenal insufficiency (Martin-Grace et al 2020 ), complex regional pain syndrome, and Lambert-Eaton myasthenic syndrome, share traits of muscle weakness. Finally, a correlation was observed between positive or negative pharmacological tuning of adrenoceptors and patients’ symptoms in NMJ-specific disorders, such as myasthenia gravis (Cao et al 2020 ; Trillenberg et al 2021 ) and some congenital myasthenic syndromes (Liewluck et al 2011 ; Burke et al 2013 ; Lorenzoni et al 2013 ).…”

Section: Enigmatic Links Between Sympathetic Nervous System and Skele...mentioning

confidence: 99%

Sympathetic innervation in skeletal muscle and its role at the neuromuscular junction

Rudolf,

Kettelhut,

Navegantes

2024

J Muscle Res Cell Motil

View full text Add to dashboard Cite

Neuromuscular junctions are the synapses between motor neurons and skeletal muscle fibers, which mediate voluntary muscle movement. Since neuromuscular junctions are also tightly associated with the capping function of terminal Schwann cells, these synapses have been classically regarded as tripartite chemical synapses. Although evidences from sympathetic innervation of neuromuscular junctions was described approximately a century ago, the essential presence and functional relevance of sympathetic contribution to the maintenance and modulation of neuromuscular junctions was demonstrated only recently. These findings shed light on the pathophysiology of different clinical conditions and can optimize surgical and clinical treatment modalities for skeletal muscle disorders.

show abstract

“…Loss of muscle fibers, variability in their size, appearance of a central nucleus, endomisial fibrosis and presence of vacuolar formation are known in patients with CIPA. It is thought that changes in muscle and deep tendon reflexes are related with chronic neuropathic and myopathic changes (4,5).…”

mentioning

confidence: 99%

A case of congenital insensitivity to pain with anhidrosis

et al. 2014

View full text Add to dashboard Cite

Variation of Muscular Structure in Congenital Insensitivity to Pain and Anhidrosis

Cited by 4 publications

References 18 publications

Renal Amyloidosis Following Chronic Osteomyelitis in a Patient with Congenital Insensitivity to Pain and Anhidrosis

Renal Amyloidosis Following Chronic Osteomyelitis in a Patient with Congenital Insensitivity to Pain and Anhidrosis

Sympathetic innervation in skeletal muscle and its role at the neuromuscular junction

A case of congenital insensitivity to pain with anhidrosis

Contact Info

Product

Resources

About