Journal of Indira Gandhi Institute Of Medical Sciences

CASE REPORT
Year
: 2020  |  Volume : 6  |  Issue : 2  |  Page : 180--182

Crouzon Syndrome: A Rare Case Report in Perimenopausal Women


Satya Kumari1, Pratibha Kumari1, Sangeeta Pankaj2, Jyotsna Rani3, Kavya Abhilashi3,  
1 Senior Resident, Dept. of Gynecological Oncology, SCI, IGIMS, Patna, India
2 Professor & Head, Dept. of Gynecological Oncology, SCI, IGIMS, Patna, India
3 Assistant Professor, Dept. of Gynecological Oncology, SCI, IGIMS, Patna, India

Correspondence Address:
Sangeeta Pankaj
Professor & Head, Dept. of Gynecological Oncology, SCI, IGIMS, Patna
India

Abstract

Crouzon syndrome is the most common craniosynostosis syndrome as it represents approximately 4.8% of all craniosynostosis cases at birth. It is characterized by premature closure of one or more cranial sutures and produces the characteristic craniofacial and other associated abnormalities which begins in the first year of life. Described by a French neurosurgeon “Octave Crouzon” in 1912, it is rare genetic disorder, and its worldwide prevalence rate is approximately 1 per 25,000 live births. It is caused by mutation in fibroblast growth factor receptor 2 gene (FGFR 2) at chromosomal locus 10q 25.3 - q 26, and more than 30 different mutations within the gene have been documented in separate families. CS has no racial or sex predilection, however, coronal craniosynostosis is more common in girls. The clinical presentation varies in severity from a mild presentation with subtle midface deficiency to severe forms with multiple cranial sutures fused and marked midface and eye problems. Management of crouzon syndrome is complex and difficult. In this article, we present a case of 45 year old female patient of Crouzon syndrome who survived long without any treatment and presented with uterine leomyoma.



How to cite this article:
Kumari S, Kumari P, Pankaj S, Rani J, Abhilashi K. Crouzon Syndrome: A Rare Case Report in Perimenopausal Women.J Indira Gandhi Inst Med Sci 2020;6:180-182


How to cite this URL:
Kumari S, Kumari P, Pankaj S, Rani J, Abhilashi K. Crouzon Syndrome: A Rare Case Report in Perimenopausal Women. J Indira Gandhi Inst Med Sci [serial online] 2020 [cited 2022 Oct 5 ];6:180-182
Available from: http://www.jigims.co.in/text.asp?2020/6/2/180/319138


Full Text



 Introduction:



Crouzon syndrome is the most common craniosynostosis syndrome as it represents approximately 4.8% of all craniosynostosis cases at birth. It is characterized by premature closure of one or more cranial sutures and produces the characteristic craniofacial and other associated abnormalities which begins in the first year of life. Described by a French neurosurgeon “Octave Crouzon” in 1912, it is rare genetic disorder, and its worldwide prevalence rate is approximately 1 per 25,000 live births. It is caused by mutation in fibroblast growth factor receptor 2 gene (FGFR 2) at chromosomal locus 10q 25.3 - q 26, and more than 30 different mutations within the gene have been documented in separate families.[1] CS has no racial or sex predilection, however, coronal craniosynostosis is more common in girls.[2],[3] The clinical presentation varies in severity from a mild presentation with subtle midface deficiency to severe forms with multiple cranial sutures fused and marked midface and eye problems. Management of crouzon syndrome is complex and difficult.

 Case Report:



A 45 year old unmarried female came along with her relatives to the OPD of gynecological oncology department with the chief complain of gradual increasing mass in lower abdomen for 6 month and irregular and very heavy menstrual cycle for 2-3 month. Since the patient clinical appearance and head size was not normal, a detailed medical and family history and clinical examination was done.

She was born out of normal labor and delivery. There were no anomalies in any siblings or near relatives reported. Abnormal shape and size of the head was noted by the family members since childhood and the severity has gradually increased. Patient was of short stature, had elliptical shaped head, prominent eyeballs, with dolichofacial growth pattern and convex facial profile and had mild to moderate mental retardation. Clinical examination revealed widened and shortened head (brachycephaly), flattened forehead, wide-spaced eyes (hypertelorism), bulging eyes (severe proptosis with exposure conjunctivitis), misaligned eyes (strabismus), wide nasal bridge, beaked nose, deviated nasal septum and underdeveloped upper jaw (maxillary midface hypoplasia). Intraoral examination showed poor oral hygiene, misaligned upper and lower teeth and high arched palate. With this clinical appearance, patient was diagnosed as a case of “Crouzon Syndrome”.

Regarding her chief complaints, there was no history of nausea, vomiting, weight loss, or anorexia, changes in bowel habits, and any genitourinary symptoms. She attained her menarche at 13 year of age, and her past menstrual cycle had always been regular. She was unmarried and denied any sexual activity and have not taken oral contraceptives. The rest of the history was non-contributory. Per abdominal examination revealed the presence of a firm, irregular, non-tender and mobile mass arising from the pelvis, corresponding in size to a pregnant uterus of 24 week gestation.

Laboratory analysis results were within physiological range including serum thyroid, prolactin, FSH, LH profile and pregnancy was excluded. Transabdominal ultrasonography and MRI report showed uterine enlargement with a large heterogenous submural mass measuring 19 x 13.5 cm with necrotic area in endometrial cavity causing expansion of endometrial cavity and thinning of myometrium suggestive of large submural fibroid with central necrosis. Another small 2.2 x 1.7 cm hypodense mass in fundal region is suggestive of intramural fibroid. Bilateral ovaries were not visualized. Bilateral mild hydroureteronephrosis was noted. No ascites or enlarged pelvic or para-aortic lymph node was noted.

Patient and relatives were counseled about the possible diagnosis of uterine fibroid or suspicious of endometrial carcinoma and underwent exploratory laparotomy after proper counseling and informed written consent. Intraoperative, the uterus was grossly enlarged by a large fibroid measuring 18 x 11 cm. Both ovaries and fallopian tubes were normal. There were no palpable pelvic or para-aortic lymph nodes. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was done. Cut-section of the gross specimen revealed fibroelastic consistency with necrotic areas suggestive of leomyoma or suspicious of endometrial carcinoma. Result of the histopathological examination confirmed the diagnosis of a benign fibroid of the uterus. The patient’s postoperative course was uneventful and she was discharged on post-operative day 8.

 Discussion:



Crouzon syndrome (CS), a type of craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity, resulting in phenotypically unaffected to severe deformities within the same family, but about one-third of the cases do arise spontaneously. A detail history, family pedigree and physical examination of the patient and the parents are important proceedings for making a clinical diagnosis.

The frequent manifestation of CS includes coronal craniosynostosis with other cranial sutures fusion, brachycephaly (widened and shortened head), frontal bossing. Ocular proptosis, a feature occurring in 100% of the cases, is secondary to shallow orbits and results in high incidence of exposure conjunctivitis or keratitis progressing to strabismic ambylopia. Hypertelorism is a universal finding in the affected individuals and is thought to arise due to a decrease in growth of the sphenozygomatic and sphenotemporal sutures. Hearing loss is common (55%) as a consequence of failure to transmit neural signals to the brain and there is 30% incidence of C2 and C3 spinal fusion.[4] Other manifestations could be progressive hydrocephalus (30%), often with tonsillar herniation and sacrococcygeal tail. However, when the premature closure of the cranial suture lines impairs brain development due to persistent increased intracranial pressure (ICP) it can lead to mental retardation.[5] Poor vision can be caused by increased intracranial pressure leading to optic atrophy and direct insult to the corneal surface, which can produce blindness if the condition is not treated. Upper airway obstruction secondary to maxillary hypoplasia can cause obstructive sleep apnea (OSA), severe OSA can lead to acute respiratory depression while mild to moderate degree of OSA can cause significant problems such as daytime sleepiness, disturbed sleep, inability to concentrate thus affecting the child’s developmental growth. Intra-oral manifestations include mandibular prognathism, overcrowding of upper and lower teeth, V-shaped maxillary dental arch, narrow, high or cleft palate and bifid uvula. Occasional oligodontia, microdontia, peg-shaped and widely spaced teeth have been reported. Extremities, mental capacity and reproductive function are usually normal in these patients.

[INLINE:1]

Crouzon syndrome is distinguishable from other craniosynostosis syndrome like, Apert syndrome, Carpenter syndrome, Pfeiffer syndrome, Seatre-chotzen syndrome and Jackson weiss syndrome by lack of hand and/or foot abnormalities.[2]

Diagnosis of crouzon syndrome is relatively straight forward based on characteristic physical examination findings and in the setting of known family history. Plain film radiography, MRI and CT imaging of the brain, fundoscopy, nasoendoscopy, polysomnography can be needed depending on severity of the disease. Molecular testing can be done if the history, physical examination and imaging are not conclusive. For those patients that have a family history of crouzon or any of the other craniosynostosis syndrome, prenatal genetic testing and 2D and 3D-ultrasound can be utilized to confirm the diagnosis before the birth of the child.[6]

Surgical management is the treatment modality of choice to correct the maldevelopment of the midface and orbits. Fortunately, not all patient will require surgery, so a team-based approach to monitor for development of complications like elevated intracranial pressure, strabismic ambylopia is necessary that would warrant intervention. Surgical treatment varies according to the variable expressivity of the disease and usually begins during a child’s first year with early craniectomy and fronto-orbital advancement to prevent or treat increased intracranial pressure. Procedure for subsequent development of midfacial hypoplasia include the Le fort III osteotomy or its segmental variants, monobloc frontofacial advancement, or bipartition osteotomy.[7],[8],[9] Adult CS, as in our case presenting with marked midface hypoplasia and exorbitism, can be corrected by orbital decompression and zygomaticomaxillary advancement.

Acute management include ventriculoperitoneal (VP) shunts for Increased ICP with hydrocephalus, temporary tarsorraphy for severe exorbitism, and tracheostomy or continuous airway pressure device or nasal stent forbreathing difficulty depending on the specific anatomical obstruction and severity of it.

Prognosis depends on malformation severity and the timing of intervention. Earlier correction (prior to 1 year of age) anecdotally minimizes cognitive disabilities, airway obstruction, and decreased visual acuity and results in better outcomes.

 Conclusion:



Women with Crouzon syndrome have a normal reproductive function. If we manage them as early in their life involving multidisciplinary team including Neurosurgeon, Oral and Maxillofacial Surgeon, Dentist, Ophthalmologist, ENT specialists, Paediatrician, Plastic surgeon and Psychologist, these women can have a normal married, reproductive and social life.

Compliance with Ethical Standards Conflict of Interest

All authors declare that they have no conflicts of interest and they have not received any grant.

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