Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be obs...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-09-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-022-01365-9 |
| _version_ | 1798003163781922816 |
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| author | Gregorio Serra Clara Giambrone Vincenzo Antona Francesca Cardella Maurizio Carta Marcello Cimador Giovanni Corsello Mario Giuffrè Vincenzo Insinga Maria Cristina Maggio Marco Pensabene Ingrid Anne Mandy Schierz Ettore Piro |
| author_facet | Gregorio Serra Clara Giambrone Vincenzo Antona Francesca Cardella Maurizio Carta Marcello Cimador Giovanni Corsello Mario Giuffrè Vincenzo Insinga Maria Cristina Maggio Marco Pensabene Ingrid Anne Mandy Schierz Ettore Piro |
| author_sort | Gregorio Serra |
| collection | DOAJ |
| description | Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). Case presentation We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis. Conclusions CES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes. |
| first_indexed | 2024-04-11T12:03:33Z |
| format | Article |
| id | doaj.art-f230bee370b44f85baf1efd9abfa1a8d |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-04-11T12:03:33Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-f230bee370b44f85baf1efd9abfa1a8d2022-12-22T04:24:47ZengBMCItalian Journal of Pediatrics1824-72882022-09-014811810.1186/s13052-022-01365-9Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndromeGregorio Serra0Clara Giambrone1Vincenzo Antona2Francesca Cardella3Maurizio Carta4Marcello Cimador5Giovanni Corsello6Mario Giuffrè7Vincenzo Insinga8Maria Cristina Maggio9Marco Pensabene10Ingrid Anne Mandy Schierz11Ettore Piro12Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoPediatric Unit, Children’s Hospital “G. Di Cristina”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoPediatric Unit, Children’s Hospital “G. Di Cristina”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoAbstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). Case presentation We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis. Conclusions CES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes.https://doi.org/10.1186/s13052-022-01365-9CESSupernumerary marker chromosomeNeonatal hypoglycemiaCholestasisCongenital hypopituitarismCase report |
| spellingShingle | Gregorio Serra Clara Giambrone Vincenzo Antona Francesca Cardella Maurizio Carta Marcello Cimador Giovanni Corsello Mario Giuffrè Vincenzo Insinga Maria Cristina Maggio Marco Pensabene Ingrid Anne Mandy Schierz Ettore Piro Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome Italian Journal of Pediatrics CES Supernumerary marker chromosome Neonatal hypoglycemia Cholestasis Congenital hypopituitarism Case report |
| title | Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome |
| title_full | Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome |
| title_fullStr | Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome |
| title_full_unstemmed | Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome |
| title_short | Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome |
| title_sort | congenital hypopituitarism and multiple midline defects in a newborn with non familial cat eye syndrome |
| topic | CES Supernumerary marker chromosome Neonatal hypoglycemia Cholestasis Congenital hypopituitarism Case report |
| url | https://doi.org/10.1186/s13052-022-01365-9 |
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