Crisponi syndrome: A new mutation in a Saudi family

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Date: May-August 2012
From: Saudi Journal for Health Sciences(Vol. 1, Issue 2)
Publisher: Medknow Publications and Media Pvt. Ltd.
Document Type: Report
Length: 1,775 words
Lexile Measure: 1370L

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Byline: Adnan. Al-Sulaimani, Osama. El-Assy, Abdelfattah. Mujahed

Crisponi syndrome is a rare autosomal recessive disorder caused by mutation in the Cytokine Receptor-Like Factor1 (CRLF1) gene. The cardinal features of this syndrome, which are always evident at birth, consist of muscular contractions of the facial muscles in response to tactile stimuli with trismus simulating tetanic spasm, abundant salivation, major feeding and respiratory difficulties, characteristics dysmorphic features, camptodactyly and hyperthermia. In infancy and childhood they develop progressing kyphoscoliosis and developmental delay. Molecular analysis performed on DNA of our patient (and both parents) showed evidence of a new pathogenetic homozygous mutation never described before in the literature. Our case is one of 9 new mutations found in addition to 29 already described mutations, thus expanding the mutational spectrum of CRLF1 in Crisponi syndrome.

Birth and Post-Natal History

Baby girl S, a full-term newborn delivered after uneventful pregnancy in Prince Sultan Hospital (Taif, KSA) on 14/9/2011 by Caesarian Section with Apgar Score 9 and 9 at 1 and 5 minutes. At the age of 3 days, the baby was referred to NICU at Al-Hada Military Hospital in Taif because of difficulty in feeding, and also to rule out neonatal sepsis.

Family History

Consanguineous Saudi Parents (1 [sup]st degree cousins). Mother is Gravida 10 Para 8 + 1 with history of 2 male sibling mortalities. One died at home 16 years ago (at age of 6 months) without diagnosis. The other sibling died at home 3 years ago (at age of 3 years) but was diagnosed as Crisponi syndrome in Riyadh Military Hospital (only phonotypical): no genetic study was done for him. He remained till the end of his life with developmental delay, home oxygen and gastrostomy tube feeding.

Clinical Manifestations

A full term baby girl weighing 4.2 kg at birth with 56 cm length, and 35.5 cm head circumference. She was mildly distressed, with O[sub]2 saturation 88-94% (FiO[sub]2 30% by nasal cannula). Other vital signs were within normal ranges.

FACE : Rounded, chubby with long philtrum, broad nose and anteverted nostrils, increased salivation, frequent startling, with recurrent marked facial muscles contractions with circum-oral cyanosis upon any tactile stimulation, attempts to suction or during crying [Figure 1],[Figure 2],[Figure 3] and [Figure 4].{Figure 1}{Figure 2}{Figure 3}{Figure 4}

HANDS : Bilateral camptodactyly with flexion deformities of fingers with ulnar deviation and adducted thumbs [Figure 2] and [Figure 3].

No other abnormalities were detected on other systemic examination.

Hospital Course

Sepsis was ruled out after septic screening. Baby had initial mild respiratory distress with tetaniform facial muscle contractions, increased salivation and short apneas. The characteristic contractions slowly disappeared when she calmed or slept.

Crisponi phenotype was diagnosed after history, picking the...

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Gale Document Number: GALE|A303192964