1.Anesthetic management of a 9-year-old girl with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay syndrome: airway difficulties and postoperative apnea during tendon surgery
Jessica G. SANTOS ; Alexandre C. BUFFON
Anesthesia and Pain Medicine 2025;20(1):46-49
Background:
This case report described the anesthetic management and postoperative challenges of a patient diagnosed with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) syndrome who underwent tenomyotomy of the right hand tendons. This syndrome, characterized by facial dysmorphisms, musculoskeletal abnormalities, and respiratory disturbances, including central apnea, is caused by a mutation in the NALCN gene.Case: A 9-year-old girl diagnosed with CLIFAHDD syndrome underwent tenomyotomy of the right hand tendon. General anesthesia was administered. Despite stable intraoperative conditions, the patient experienced inadequate ventilation with multiple episodes of apnea after extubation, necessitating assisted ventilation using a face mask.
Conclusions
This case highlights the challenges and considerations in the anesthetic management of patients with CLIFAHDD syndrome, emphasizing the need for tailored approaches and vigilant postoperative monitoring to mitigate the potential respiratory complications associated with this rare genetic disorder.
2.Risk of Cognitive Impairment in Patients With Parkinson’s Disease With Visual Hallucinations and Subjective Cognitive Complaints
Diego SANTOS-GARCÍA ; Teresa de Deus FONTICOBA ; Carlos Cores BARTOLOMÉ ; Maria J. Feal PAINCEIRAS ; Jose M. Paz GONZÁLEZ ; Cristina Martínez MIRÓ ; Silvia JESÚS ; Miquel AGUILAR ; Pau PASTOR ; Lluís PLANELLAS ; Marina COSGAYA ; Juan García CALDENTEY ; Nuria CABALLOL ; Ines LEGARDA ; Jorge Hernández VARA ; Iria CABO ; Lydia López MANZANARES ; Isabel González ARAMBURU ; Maria A. Ávila RIVERA ; Víctor Gómez MAYORDOMO ; Víctor NOGUEIRA ; Víctor PUENTE ; Julio Dotor GARCÍA-SOTO ; Carmen BORRUÉ ; Berta Solano VILA ; María Álvarez SAUCO ; Lydia VELA ; Sonia ESCALANTE ; Esther CUBO ; Francisco Carrillo PADILLA ; Juan C. Martínez CASTRILLO ; Pilar Sánchez ALONSO ; Maria G. Alonso LOSADA ; Nuria López ARIZTEGUI ; Itziar GASTÓN ; Jaime KULISEVSKY ; Marta Blázquez ESTRADA ; Manuel SEIJO ; Javier Rúiz MARTÍNEZ ; Caridad VALERO ; Mónica KURTIS ; Oriol de FÁBREGUES ; Jessica González ARDURA ; Ruben Alonso REDONDO ; Carlos ORDÁS ; Luis M. López DÍAZ L ; Darrian MCAFEE ; Pablo MARTINEZ-MARTIN ; Pablo MIR ;
Journal of Clinical Neurology 2023;19(4):344-357
Background:
and Purpose Visual hallucinations (VH) and subjective cognitive complaints (SCC) are associated with cognitive impairment (CI) in Parkinson’s disease. Our aims were to determine the association between VH and SCC and the risk of CI development in a cohort of patients with Parkinson’s disease and normal cognition (PD-NC).
Methods:
Patients with PD-NC (total score of >80 on the Parkinson’s Disease Cognitive Rating Scale [PD-CRS]) recruited from the Spanish COPPADIS cohort from January 2016 to November 2017 were followed up after 2 years. Subjects with a score of ≥1 on domain 5 and item 13 of the Non-Motor Symptoms Scale at baseline (V0) were considered as “with SCC” and “with VH,” respectively. CI at the 2-year follow-up (plus or minus 1 month) (V2) was defined as a PD-CRS total score of <81.
Results:
At V0 (n=376, 58.2% males, age 61.14±8.73 years [mean±SD]), the frequencies of VH and SCC were 13.6% and 62.2%, respectively. VH were more frequent in patients with SCC than in those without: 18.8% (44/234) vs 4.9% (7/142), p<0.0001. At V2, 15.2% (57/376) of the patients had developed CI. VH presenting at V0 was associated with a higher risk of CI at V2 (odds ratio [OR]=2.68, 95% confidence interval=1.05–6.83, p=0.039) after controlling for the effects of age, disease duration, education, medication, motor and nonmotor status, mood, and PD-CRS total score at V0. Although SCC were not associated with CI at V2, presenting both VH and SCC at V0 increased the probability of having CI at V2 (OR=3.71, 95% confidence interval=1.36–10.17, p=0.011).
Conclusions
VH were associated with the development of SCC and CI at the 2-year follow-up in patients with PD-NC.

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