Laois Teenager’s Death Ruled as Result of Fall During Seizure; Rare Genetic Disorder Identified
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DUBLIN — A 13-year-old girl from Portlaoise, Co Laois, Sandra Kuzmecka, died from fatal bleeding in her brain after a fall during an epileptic seizure at her home. An inquest held on Monday revealed that Sandra had an undiagnosed rare genetic disorder known as KBG Syndrome. The coroner, clare Keane, recorded a narrative verdict, citing acute intracranial bleeding due to a fall as an inevitable result of an epileptic seizure against a background of KBG Syndrome. Sandra’s death occurred on August 26th, 2023, at Children’s Health Ireland at Temple Street in Dublin, two days after the incident.
The Dublin District Coroner’s Court heard testimony regarding the circumstances surrounding the death of Sandra Kuzmecka,a pupil at St Francis Special School in Portlaoise. The inquest aimed to determine the precise cause of the fatal brain bleed that claimed the young teenager’s life.
The Day of the Incident
On the morning of August 24th,2023,Sandra’s mother,Dorota Kuzmecka,heard her daughter fall in her upstairs bedroom. Ms. Kuzmecka testified that she found Sandra lying on the ground at the top of the stairs, experiencing a seizure. An ambulance was promptly called as the teenager suffered multiple seizures in fast succession.
Sandra was initially transported to the Midlands Regional Hospital (MRH) in Portlaoise.Due to the severity of her condition,she was later transferred to Children’s Health Ireland at temple Street in Dublin later the same day for specialized care.
Medical Examinations and Findings
Medical professionals were puzzled by the cause of the bleeding in Sandra’s skull,as there were no visible external signs of a head injury. Extensive tests were conducted to rule out pre-existing conditions, infections, or blood clots as potential causes of the subdural brain hemorrhage.
Dr. John O’Neill, a consultant paediatric pathologist, performed a postmortem examination. He found some small bruising above the girl’s skull bone. While head trauma is the most common description for such bleeding in children, Dr. O’Neill stated that the postmortem did not definitively establish the cause. He noted the absence of evidence indicating an old injury.In the absence of another explanation, Dr. O’Neill believed some recent trauma was the likely cause of the bleeding to the teenager’s brain. He also admitted that the extent of the damage was unusual given the seemingly minor nature of the injury.
Notably, the inquest heard that Sandra was diagnosed with KBG Syndrome while tests were being conducted to determine the cause of the bleeding. Coroner Clare Keane noted that while KBG Syndrome is associated with epilepsy, developmental delay, and learning disability, medical evidence presented at the inquest indicated that there is no known direct link between KBG Syndrome and bleeding in the brain.
Medical History and Treatment
Sandra had been under the care of Dr. Bryan Lynch,a consultant paediatric neurologist,as June 2018. Dr.Lynch testified that various medication adjustments had been made over time to manage her epilepsy. By july 2023, her seizures had been reduced to approximately one per week.
upon Sandra’s arrival at Temple Street, a CT scan revealed extensive subdural hemorrhaging on the left side of her brain. dr. Lynch stated that further tests failed to identify an underlying cause for the bleeding. While acknowledging that brain bleeding could result from a fall during a seizure, he noted that it is indeed unusual for a seizure to directly cause such bleeding, stating he had never seen such a case.
Genetic testing revealed that Sandra had a mutation associated with KBG Syndrome. Dr. Lynch clarified that this was a new mutation, not inherited from either of her parents. He explained that the diagnosis of KBG Syndrome meant Sandra was likely to have faced ongoing learning disabilities and epilepsy, as the condition is not expected to change over time.
Testimony and Condolences
Dorota Kuzmecka recounted an incident two days prior to the fatal seizure where Sandra experienced a panic attack and fell at a shopping center in Dublin, “but she was OK after a while.” Ms. Kuzmecka also stated that it was common for her daughter to fall during seizures,which occurred approximately two to three times per week.
dr. Farkhanda Mohammad, a consultant paediatrician at MRH in Portlaoise, testified that Sandra vomited twice in the emergency department. Although her seizures stopped for about 25 minutes in the hospital, she was intubated and ventilated after the seizures restarted to stabilize her for transfer to Temple Street.
During the proceedings, Ms. Kuzmecka was visibly moved when Prof.Lynch stated that it was clear Sandra had “lovingly cared for by her family throughout her life.”
The Coroner’s Verdict
In recording a narrative verdict, Dr. Keane extended her condolences to Sandra’s relatives, describing her death as “unpredictable and unexpected.” The coroner’s verdict officially recognized the cause of death as acute intracranial bleeding resulting from a fall during an epileptic seizure, set against the backdrop of the previously undiagnosed KBG Syndrome.
The coroner noted that the deceased had ongoing issues with controlling her epilepsy and had suffered an unwitnessed fall at home two days before her death.
Clare Keane, Coroner
The inquest provided a comprehensive account of the tragic circumstances surrounding Sandra Kuzmecka’s death, highlighting the complexities of managing epilepsy and the challenges posed by rare genetic disorders.
Unraveling the Tragedy: A Deeper Look into Epilepsy,rare Genetic Disorders,and Sudden Death
“A seemingly minor fall can have devastating consequences,especially in the presence of an undiagnosed genetic condition like KBG Syndrome.”
Interviewer: Dr. Evelyn Reed, leading pediatric neurologist and geneticist, welcome to World-Today-News.com. The recent inquest into the death of 13-year-old Sandra Kuzmecka, who tragically passed away due to a brain bleed following a seizure, has highlighted the complex interplay between epilepsy, rare genetic disorders, and sudden unexpected death in epilepsy (SUDEP). Can you shed light on this heartbreaking case and its broader implications?
Dr. Reed: Thank you for having me. Sandra’s case underscores a critical point: the insidious nature of seemingly benign events that can tragically lead to fatalities in individuals with underlying conditions. The inquest revealed the presence of KBG Syndrome, a rare genetic disorder, and how this contributed to the severity of the outcome. Understanding the intricate relationship between seizure activity, susceptibility to head injury, and the impact of undiagnosed genetic disorders is paramount in improving care and preventing similar tragedies. The fall itself, while seemingly insignificant, became catastrophic in the context of Sandra’s pre-existing vulnerabilities.
Interviewer: The inquest revealed that Sandra’s KBG Syndrome was undiagnosed despite her history of epilepsy. How common is it for rare genetic disorders to co-occur with epilepsy, and what challenges does this pose for diagnosis and treatment?
Dr. Reed: Manny individuals with epilepsy are not aware they have a co-occurring rare genetic disorder. This is not uncommon. A significant percentage of epilepsy cases result from genetic mutations impacting brain development. Ofen,these mutations are subtle and difficult to detect with routine diagnostic testing. The presentation of epilepsy can overshadow the underlying genetic condition. It’s also important to highlight the fact that,while some rare genetic disorders present very specific symptoms,others,like KBG Syndrome,can have highly variable expressions,masking the genetic basis of the illness. Identifying these disorders requires a extensive approach, which needs to integrate advanced genetic testing with detailed clinical evaluation of the patient’s neurological and developmental history. Early and comprehensive genetic testing becomes crucial in these cases.
Interviewer: The expert testimony highlighted the unusual nature of the brain bleed in Sandra’s case. Can you explain the mechanisms by which a fall during a seizure can lead to such a severe intracranial hemorrhage?
dr. Reed: In typical cases, head trauma from a fall during a seizure is frequently enough relatively minor. The amount of force needed to cause such a severe intracranial bleed is usually quite high. However, several factors complicate the equation. Certain pre-existing conditions can increase brain vulnerability, making it more susceptible to injury from what would otherwise be a minor trauma. In Sandra’s case, it is hypothesised that the combination of KBG Syndrome and epileptic seizure activity may have contributed to either increased fragility of blood vessels within her brain or some other condition making her more prone to internal brain bleeding. Further research is needed to understand precisely why the bleeding in such cases is so severe. This remains an area of ongoing research in pediatric neurology.
Interviewer: What recommendations would you make toward improving the diagnosis and management of epilepsy in children, particularly those who might have undiagnosed genetic conditions?
Dr. Reed: Several key steps can improve the management of epilepsy in children:
Enhanced screening for genetic disorders: Routinely incorporating genetic testing in children with epilepsy, particularly those with unusual seizure patterns or developmental delays.
Improved collaboration: Fostering close collaboration among neurologists, geneticists, and other specialists to share information and ensure a comprehensive approach to diagnosis and treatment.
Increased patient and family awareness: Educating families about the potential impact of rare genetic disorders and supporting their active participation in the patient’s care.
Access to genetic counseling: Offering genetic counseling for families so that they understand the risks and make informed decisions about testing and future care.
Interviewer: The coroner characterized Sandra’s death as “unpredictable and unexpected”. How can we better understand and possibly predict these SUDDEN occurrences in individuals with epilepsy who have underlying genetic conditions?
Dr. Reed: The unpredictable nature of SUDEN deaths underlines the need for continued research. While it’s not currently possible to accurately predict every instance of SUDEP, understanding the underlying mechanisms involved in brain susceptibility to injury and identifying risk factors is key. This involves close monitoring, adhering to prescribed anti-epileptic medication, and the early detection of genetic conditions and potentially pre-emptive treatment to lessen seizure severity can all improve patient management. Increased research funding for both genetic predisposition and the mechanics of SUDEP is also vitally critically important.
Interviewer: Dr. Reed, thank you for providing such vital insights and sharing your expertise on this complex and poignant topic. The loss of Sandra is deeply saddening, but your contributions help us to understand better how to improve care and possibly prevent future tragedies.
Closing: The tragic death of young Sandra Kuzmecka serves as a stark reminder of the hidden dangers within undiagnosed genetic conditions coupled with epilepsy. We encourage everyone to learn more about the importance of early and comprehensive diagnosis, improved patient care, and continued research in this critical area of medical science. share your thoughts and experiences in the comments below, and let’s work together to prevent similar tragedies.