Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome

Abstract

The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, hypertonia, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and long philtrum). Most patients have died in the first months of life due to hyperthermia. The syndrome has been described in Italians only; the inheritance pattern is most probably autosomal recessive. Here we describe a 4-year-old boy of Portuguese descent with this entity. Polysomnography during a paroxysmal muscle contraction showed severe obstructive breathing pattern. The overall breathing pattern outside the attacks showed a bizarre mix of disorders of control of breathing with central apneas, hypopnea, obstructive apneas, and long periods of expiratory apneas while the boy was awake. The hyperexcitability disappeared in the course of the first year of life. With time it became clear that he was developmentally delayed. A short review is provided, and the resemblance with the Stuve-Wiedemann syndrome is stressed.

Crisponi syndrome: A new case with additional features and new mutation in CRLF1

“…Most patients (15 from 17) died soon after birth, during hyperthermic episodes in a period from few weeks to some months. Recently, Accorsi et al [2003], Nannenberg et al [2005], Crisponi et al [2007], Dagoneau et al [2007], and Della Marca et al [2008], described additional patients with similar features (Table I).…”

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

“…1 Further patients have been reported later. [2][3][4][5][6][7][8] The syndrome usually manifests at birth, when patients present with hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, as well as feeding and respiratory difficulties often requiring the use of nasogastric feeding. Physical dysmorphisms such as a large face, broad nose and camptodactyly have been described in most of the patients.…”

“…Physical dysmorphisms such as a large face, broad nose and camptodactyly have been described in most of the patients. [3][4][5]7,8 Hyperthermia is frequently associated with death within the first months of life. Feeding difficulties and hyperthermia often resolve after infancy in the rare surviving patients, who then develop scoliosis and sometimes psychomotor retardation.…”

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation

“…Later, the children show abnormal sweating and progressive kyphoscoliosis. However, the main prominent feature of SWS is the severe bowing of the long bones with internal cortical thickening and metaphyseal changes, never seen in CS/CISS1 [Accorsi et al, 2003;Dagoneau et al, 2004;Nannenberg et al, 2005]. Another differential diagnosis is the neonatal tetanus [Crisponi et al, 2007;Thomas et al, 2008].…”