Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is mainly associated with CRLF1 and, rarely, CLCF1. PERCHING syndrome, previously known as CS/CISS type-3 associated with biallelic pathogenic variants in KLHL7, is notable for its few overlapping manifestations. This study presents genotype-phenotype relationships in CS/CISS-like spectrum associated with CRLF1 and KLHL7. Clinical findings of 19 patients from 14 families and four patients from three families were found in association with six different CRLF1 and three different KLHL7 variants, respectively. c.167T>C and c.713delC of the CRLF1 gene and the c.642G>C of the KLHL7 were novel. The c.708_709delCCinsT allele of CRLF1 was identified in 10 families from the Mardin province of Turkey, underlining that an ancestral haplotype has become widespread. CRLF1-associated phenotypes revealed novel manifestations such as prenatal oligohydramnios, benign external hydrocephalus, previously unreported dysmorphic features emerging with advancing age, severe palmoplantar keratoderma and facial erythema, hypopigmented macules and streaks, and recurrent cardiac arrests. KLHL7 variants presented with glabellar nevus flammeus, blepharophimosis, microcephaly, thin corpus callosum, and cleft palate. Abnormalities of sweating, observed in one patient reported herein, is known to be very rare among KLHL7-related phenotypes.

[General anesthesia for Crisponi syndrome: case report]. / Anestesia geral para Síndrome de Crisponi: relato de caso.

Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19°C. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.

General anesthesia for Crisponi syndrome: case report / Anestesia geral para Síndrome de Crisponi: relato de caso

Abstract Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19ºC. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.

Resumo A Síndrome de Crisponi é uma condição clínica hereditária grave e rara caracterizada por contrações musculares, trismo, apneia, distúrbios na alimentação, picos de febre alta e inexplicável, e falência de múltiplos órgãos. Descrevemos o cuidado perioperatório de paciente pediátrica com 17 meses de idade, portadora da Síndrome de Crisponi, submetida a gastrostomia endoscópica. A temperatura da sala de cirurgia foi cuidadosamente monitorizada e mantida a 19ºC. A paciente foi submetida a agentes anestésicos inalatórios e venosos. O cuidado cirúrgico e perioperatório desenvolveram-se sem incidentes. As crises de febre na Síndrome de Crisponi originam-se de mutação no gene CRLF1, o que as diferenciam do mecanismo fisiopatológico da hipertermia maligna.

Cardiotrophin-like cytokine factor 1 (CLCF1) and neuropoietin (NP) signalling and their roles in development, adulthood, cancer and degenerative disorders.

Mutations in cardiotrophin-like cytokine factor (CLCF1) and the related cytokine to which it binds, cytokine receptor-like factor 1 (CRLF1), are associated with Crisponi/cold induced sweating syndromes, and lead to early neonatal death in mice due to a suckling defect. These cytokines are members of the IL-6 superfamily, and form a range of composite cytokines that signal through gp130 bound either to the ciliary neurotrophic factor receptor (CNTFR) or a complex that involves the IL-27 p28 subunit. This review describes current knowledge of the signalling complexes formed by these cytokines, and explores their described and suggested roles in the neural, haematopoietic, skeletal, renal, immune and respiratory systems during development and adulthood, and in degenerative diseases and cancer.

Trismus in the paediatric population.

Trismus is a rare presentation affecting neonates, children, and adults. In newborns there are serious implications, with potential to affect feeding, cause airway problems, and make intubation difficult. Causes of trismus seen in the paediatric patient are discussed in this review article; they are divided into intra- and extra-articular types. The extra-articular group consists of congenital and acquired disorders. The acquired group includes infective causes such as tetanus, iatrogenic causes related to drugs, cancer or dental treatment, and trauma causing articulation difficulty or triggering a rare type of bone growth in myositis ossificans. Changes in the mouth resulting from oral submucous fibrosis can undergo malignant transformation. This review aims to raise awareness of potential causes of trismus in paediatric populations, helping clinicians identify the underlying pathology so appropriate strategies for treatment be applied, with the ultimate aim of improving long-term outlook and quality of life for affected children.

Congenital trismus secondary to masseteric fibrous bands: a 7-year follow-up report as an approach to management.

A 7-year prospective follow-up report, which was previously presented in this journal as an initial pediatric case report, is presented as an approach to management of congenital trismus secondary to masseteric fibrous bands. Adams and Rees discussed management, including endoscopic exploration at 18 months of age with early recurrence of trismus. Under the care of the same plastic surgeon and his team, the progress of this patient over 7 years has given us an insight into management. The cause of trismus is not fully elucidated, but the condition can result in compromised caloric intake, speech development, facial appearance, dental care, and oral hygiene. The decreased oral opening may be secondary to shortening of the muscles of mastication, which may cause tension moulding and distortion of the coronoid process; yet, there is no consensus on the optimal management of temporomandibular joint trismus and all its causes. The patient presented in this report, now aged 7 years, has proceeded through to open surgery on two occasions yet, regrettably, has persistently tight masseter muscles and only 8 mm of jaw opening.

Moebius syndrome: the new finding of hypertrophy of the coronoid process.

The first detailed description of congenital facial paralysis was reported by Moebius in 1888. It is characterized by either unilateral or bilateral paralysis of the facial muscles and an associated abducens palsy. The present report is of two patients with Moebius syndrome, who were also diagnosed with trismus at birth. Each patient also demonstrated bilateral hypertrophy of the coronoid process of the mandible. In effect, the zygoma obstructed the excursion of the mandible because of a "coronoid block." A three-dimensional computed tomography scan demonstrated normal temporomandibular joints but bilateral hypertrophy of the coronoid processes and micrognathia. Both patients demonstrated less than 10 mm of oral excursion. Bilateral coronoidectomies were performed through an intraoral approach. The oral excursions after surgery increased to at least 20 mm. In each of these patients, the coronoid process was enlarged relative to the zygoma, which was of normal size and configuration. The trismus was associated with blocking of the coronoid by the anterior zygoma, preventing open or full excursion of the hypoplastic mandibles. Moebius syndrome can have a variable presentation at birth. In two patients, the authors describe a new finding of hypertrophy of the coronoid process and trismus secondary to obstruction of the coronoid by the hypertrophic zygomas during oral excursions. Each patient is described, and a review of the literature is discussed.

Congenital trismus secondary to masseteric fibrous bands: endoscopically assisted exploration.

The authors present an 18-month-old female infant with congenital trismus. Computed tomography and magnetic resonance imaging were not helpful in determining the cause. A surgical endoscope was used to explore her temporomandibular joints and temporal fossae, thus avoiding the morbidity of a bicoronal incision. The cause was bilateral fibrous bands on the anterior border of the masseter muscles. Incision of these fibrous bands led to relief of the trismus. This finding is consistent with a previously described variant of the Hect-Beals-Wilson trismus-pseudocamptodactyly syndrome. This patient, however, had no evidence of the autosomal dominant inheritance pattern nor did she exhibit pseudocamptodactyly, both of which are generally ascribed to this syndrome. Unfortunately the trismus recurred 3 months postoperatively.

Recurrent trismus: twenty-year follow-up result.

The authors encountered an unusual case of recurrent trismus in a patient who had oral synechia, cleft lip and palate, digital anomalies, and external genital anomaly. Mandibular movement was severely restricted by congenital soft-tissue adhesion in the retromolar region. Despite aggressive surgical efforts and postoperative manipulations, limitation of mouth opening recurred soon after each operation. Furthermore, congenital and postoperative soft-tissue adhesion resulted in severe subsequent jaw deformities, which needed combined maxillary and mandibular advancement.

Cleft palate and congenital alveolar synechia syndrome.

This report describes a newborn boy with cleft palate and congenital trismus preventing normal feeding. After surgical division of the fibrous bands between the maxillary and mandibular alveolar ridge, oral feedings progressed without difficulty. Historical reports of congenital oral bands are reviewed.

The Hecht, Beals, and Wilson syndrome: report of case.

An unusual and rarely reported syndrome having as one of its features restricted mandibular opening has been reported. The diagnostic and treatment problems are discussed.