1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, A.; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Bürglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean‐Michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Hérissant, Lucas; Héron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Caignec, Cédric Le; Lévy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel‐Richard, Céline; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne‐Claude; Verloès, Alain; Vieville, Gaëlle; Yardin, Catherine; Vialard, François; Doco‐Fenzy, Martine

doi:10.1002/ajmg.a.63041

Cited by 11 publications

(5 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…First described in the 1980s, phenotypic presentation is now known to include developmental delay, intellectual disability, neuropsychiatric disease, seizures, brain anomalies, vision loss, hearing loss, cardiomyopathy, left ventricular noncompaction, congenital heart defects, short stature, cleft palate, and/or craniofacial anomalies [ 1 ]. This syndrome is usually diagnosed in childhood, with a reported 6.12 years mean age at diagnosis [ 2 ]. To our knowledge, no reports of hypoglycemia have been reported in this syndrome.…”

Section: Introductionmentioning

confidence: 99%

Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome

Auckley,

Arosemena,

Philipson

2024

JCEM Case Reports

View full text Add to dashboard Cite

The 1p36 deletion syndrome involves a phenotypic presentation that includes central nervous system, cardiac, and craniofacial anomalies. We report the case of a 21-year-old female patient with 1p36 deletion syndrome who was found to have noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) after hospitalization for persistent falls. On admission, vital signs were normal and physical examination revealed a thin, nonverbal patient. During hospitalization and prolonged fasting (14-18 hours), she persistently developed hypoglycemia (serum glucose nadir 57 mg/dL [3.2 mmol/L] [70-100 mg/dL; 3.9-5.6 mmol/L]). Subjective symptoms of hypoglycemia were not confirmed due to patient's cognitive impairment. Hypoglycemic events continued despite feeding and dextrose-containing fluids. Further workup included a critical sample that revealed a serum glucose 59 mg/dL (3.3 mmol/L), insulin 20.6 μIU/mL (123.6 pmol/L [5-15 μIU/mL; 30.0-90 pmol/L]), proinsulin 33 pmol/L (3.6-22 pmol/L), C-peptide 1.74 ng/mL (0.58 nmol/L [0.8-3.85 ng/mL; 0.27-1.28 nmol/L]) and beta-hydroxybutyrate < 1.04 mg/dL (< 0.10 mmol/L; [< 4.2 mg/dL; < 0.4 mmol/L]). Insulin antibodies were negative. After confirmed insulin-mediated hypoglycemia, imaging studies followed. Pancreatic protocol abdominal computed tomography (CT), Ga-68 DOTATATE PET/CT scan, and endoscopic ultrasound found no pancreatic mass. Selective arterial calcium stimulation test showed a two-fold increase in insulin levels in 3/3 catheterized pancreatic territories. The patient started octreotide injections with resolution of hypoglycemia and was discharged on monthly lanreotide injections. To our knowledge, this is the first case reported of noninsulinoma pancreatogenous hypoglycemia in a patient with 1p36 deletion syndrome.

show abstract

Section: Introductionmentioning

confidence: 99%

Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome

Auckley,

Arosemena,

Philipson

2024

JCEM Case Reports

View full text Add to dashboard Cite

show abstract

“…Also, cerebral impairment due to the congenital neurodevelopmental abnormalities, cerebral ischemic/hypoxic injury, intracerebral hemorrhage and so on can lead to neural dysregulation of upper airway muscle activity, and result in the PAL [13] . It is worth noting that some congenital gene variant diseases, such as CHARGE syndrome [14] , 1p36 deletion syndrome [15] can develop both craniofacial abnormalities and cerebral impairment. In this case, it is more likely to develop PAL.…”

Section: Discussionmentioning

confidence: 99%

Early-onset pharyngeal airway collapse in infant: a retrospective single-center study

Wei,

Chen,

Nong

et al. 2023

Preprint

View full text Add to dashboard Cite

Background Early-onset pharyngeal airway collapse(PAL) in infant, which presents with onset within 6-months old is relatively rare, and has not been given enough attention in clinic. The aim of this study was to explore the clinical features, endoscopic findings and outcomes of early-onset PAL in infant. Methods The children of PAL with onset within 6-months old were included, and a retrospective study was conducted. Results 1. Total 26 cases were included. The age of onset was neonatal period in 20 cases, 1 to 3-months old in 5 cases, and 4 to 6-months old in 1 case. 2. The main clinical manifestations were noisy breathing(26/26), suprasternal retraction(18/26), snoring(14/26) and hypoxic episode(13/26). 3. Based on the endoscopic findings, collapse at the retropalatal level was most common(24/26). 4. Twelve cases underwent pharyngolaryngeal CT examination, which revealed abnormal findings in 7 cases. 5. Fifteen cases were accompanied with the other airway malformations. 6. In the group with underlying diseases of cerebral impairment or craniofacial abnormalities, 1 case was lost to follow up, 4 cases died, and 10 cases survived, in which 9 cases had neurodevelopmental disorders. In the group without underlying diseases, 2 cases were lost to follow up, 9 cases survived, in which 1 case had neurodevelopmental disorders. The incidence of poor prognosis including death and neurodevelopmental disorders was significantly higher in the group with underlying diseases than that without underlying diseases(P＜0.01). 7. An symptomatic improvement of PAL was found in the majority of the survived cases(18/19) with age. Conclusions Early-onset PAL in infant usually exhibits varying degrees of relief with age, whereas the cases with underlying diseases had a poor prognosis.

show abstract

“…Also, cerebral impairment due to the congenital neurodevelopmental abnormalities, cerebral ischemic/hypoxic injury or intracerebral hemorrhage can lead to neural dysregulation of upper airway muscle activity and result in the PAC [ 13 ]. It is worth noting that some congenital diseases due to the gene variant, such as CHARGE syndrome [ 14 ], 1p36 deletion syndrome [ 15 ] can develop both craniofacial abnormalities and cerebral impairment. In this case, it is more likely to develop PAC.…”

Section: Discussionmentioning

confidence: 99%

Early-onset pharyngeal airway collapse in infants: a retrospective single-center study

Qing,

Xun,

Guangmin

et al. 2023

BMC Pediatr

View full text Add to dashboard Cite

Background Early-onset pharyngeal airway collapse (PAC) in infants, which presents with onset within 6-months old is relatively rare. This disease has not been given enough attention in clinic. The aim of this study was to explore the clinical features, endoscopic findings and outcomes of early-onset PAC in infants. Methods The children of PAC with onset within 6-months old were included. A retrospective study was conducted. Results (1) Total 26 cases were included. The age of onset was neonatal period in 20 cases, 1 to 3-months old in 5 cases, and 4 to 6-months old in 1 case. (2) The main clinical manifestations were noisy breathing (26/26), suprasternal retraction (18/26), snoring (14/26) and hypoxic episode (13/26). (3) Based on the endoscopic findings, collapse at the retropalatal level was most common (24/26). (4) Twelve cases underwent pharyngolaryngeal CT examination, which revealed abnormal findings in 7 cases. (5) Fifteen cases were accompanied with the other airway malformations. (6) In the group with comorbidities of cerebral impairment or craniofacial abnormalities, 1 case was lost to follow up, 4 cases died, and 10 cases survived, in which 9 cases had neurodevelopmental disorders. In the group without comorbidities, 2 cases were lost to follow up, 9 cases survived, in which 1 case had neurodevelopmental disorders. The incidence of poor prognosis including death and neurodevelopmental disorders was significantly higher in the group with comorbidities than that without comorbidities (P<0.01). (7) An symptomatic improvement of PAC was found in the majority of the survived cases (18/19) with age. Conclusions Early-onset PAC in infants usually exhibits varying degrees of relief with age, whereas the cases with comorbidities had a poor prognosis.

show abstract

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Cited by 11 publications

References 34 publications

Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome

Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome

Early-onset pharyngeal airway collapse in infant: a retrospective single-center study

Early-onset pharyngeal airway collapse in infants: a retrospective single-center study

Contact Info

Product

Resources

About