Idiopathic intracranial hypertension without papilledema

Inspired by a colleague

Beri S, Gosalakkal JA, Hussain N, Balky AP, Parepalli S. Idiopathic intracranial hypertension without papilledema. Pediatr Neurol. 2010 Jan;42(1):56-8. doi: 10.1016/j.pediatrneurol.2009.07.021. PMID: 20004864.
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Abstract

Idiopathic intracranial hypertension is characterized by high cerebrospinal fluid pressure with no underlying structural or systemic cause. Idiopathic intracranial hypertension without papilledema, although well-described in adults, is rarely reported in the pediatric population. The usual presentation is similar to that of chronic daily headache, with some features of migraine. However, treatment modalities are different, and specific therapy can lead to significant improvement in symptoms. We describe six children with chronic daily headache, who were diagnosed with idiopathic intracranial hypertension without papilledema. The response to medical management was variable. One child required a lumboperitoneal shunt for persistent signs, with good surgical outcome.

Favoni V, Pierangeli G, Toni F, Cirillo L, La Morgia C, Abu-Rumeileh S, Messia M, Agati R, Cortelli P, Cevoli S. Idiopathic Intracranial Hypertension Without Papilledema (IIHWOP) in Chronic Refractory Headache. Front Neurol. 2018 Jun 26;9:503. doi: 10.3389/fneur.2018.00503. PMID: 29997572; PMCID: PMC6029151.

Abstract

Background: To determine the prevalence of Idiopathic intracranial hypertension without papilledema (IIHWOP) testing revised diagnostic criteria by Friedman in refractory chronic headache (CH) patients.

Methods: This is a prospective observational study. Each patient underwent ophthalmologic evaluation and Optical Coherence Tomography; brain magnetic resonance venography (MRV) and a lumbar puncture (LP) with opening pressure (OP) measurement. CSF withdrawal was performed in patients with CSF OP > 200 mmH20. IIHWOP was defined according Friedman's diagnostic criteria. Effect of CSF withdrawal was evaluated clinically in a 6-month follow-up and with a MRV study at 1 month.

Results: Forty-five consecutive patients were enrolled. Five were excluded due to protocol violations. Analyses were conducted in 40 patients (32 F, 8 M; mean age 49.4 ± 10.8). None had papilledema. Nine patients (22.5%) had OP greater than 200 mmH2O, two of them above 250 mmH2O. Two (5%) had neuroimaging findings suggestive of elevated intracranial pressure. One of them (2.5%) met the newly proposed diagnostic criteria by Friedman for IIHWOP. After CSF withdrawal seven (77.8%) of the nine patients improved. No changes in neuroimaging findings were found.

Conclusions: We found a low prevalence (2.5%) of IIHWOP in refractory CH patients according to current diagnostic criteria. In agreement with Friedman's criteria, our results confirm that a diagnosis of IIHWOP should be based on CSF OP and the combination of neuroradiological findings. However, where to set the CSF OP upper limit in IIHWOP needs further field testing. Although IIHWOP is a rare clinical condition, it should be considered and treated in refractory CH patients.

Neurelis apology

 

Lexidrug tells me the price is $439.12 for each dose, or $2,195.60 for a 5 pack. Fortunately, the shelf life is 32-36 months. Given that most of my patients will never actually use a rescue medication, that is a hefty price.

Concentrate (diazePAM Oral) 5 mg/mL (per mL): $5.00

Cheap Diazepam Intensol (5 mg/mL) has been utilized extensively as a rescue medication for seizures, generally given buccally. I have not yet seen evidence for the superiority of Valtoco vs Diazepam Intensol.

Midazolam 10 mg/2 ml (per ml)  $0.75 - $3.86

Cheap midazolam has been used extensively as an intranasal or buccal rescue medication for seizures.

Nayzilam per 5 mg $400.15

From Nickels, Katherine C. “Less Effective and More Expensive: Is It Time to Move on From Rectal Diazepam?.” Epilepsy currents vol. 18,1 (2018): 27-28. doi:10.5698/1535-7597.18.1.27: According to this study, the most cost-effective therapy was buccal midazolam, with absolute cost effectiveness of $7.93/SS. Nasal midazolam, nasal lorazepam, and intramuscular midazolam had similar costs, ranging from $13.37/SS to $15.54/SS. The only outlier was rectal diazepam, costing $435.16/SS at the time of their study. Rectal diazepam remained the outlier when incremental effectiveness and willingness to pay were analyzed. The authors determined that, based on efficacy, rectal diazepam would not be cost-effective unless the cost were $6 or less. The current cost of rectal diazepam is approximately $326.

Valtoco and Nayzilam are the current outliers.

I am currently freely prescribing Valtoco and Nayzilam, but I hold my nose when I do so.

Do classic psychedelics increase the risk of seizures?

Courtesy of a colleague

Soto-Angona Ó, Fortea A, Fortea L, Martínez-Ramírez M, Santamarina E, López FJG, Knudsen GM, Ona G. Do classic psychedelics increase the risk of seizures? A scoping review. Eur Neuropsychopharmacol. 2024 Aug;85:35-42. doi: 10.1016/j.euroneuro.2024.05.002. Epub 2024 Jun 24. PMID: 38917636.

Abstract

Seizures are a concerning adverse event frequently associated with the use of psychedelics, and hence, studies involving these substances tend to exclude patients with past history of epilepsy. This is especially relevant because epileptic seizures are markedly increased in the population suffering from mental disorders, and psychedelic assisted therapy is being researched as a promising treatment for several of them. To determine the extent of the current literature on the relationship between classic psychedelics and seizures, a scoping review was performed using the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews). The search was conducted in PubMed, Web of Science, Google scholar, LILACS and Scielo, and both animal and human models were included. A total of 16 publications on humans, and 11 on animals, were found. The results are heterogeneous, but globally suggest that psychedelics may not increase the risk of seizures in healthy individuals or animals in the absence of other drugs. However, concomitant use of other substances or drugs, such as kambo or lithium, could increase the risk of seizures. Additionally, these conclusions are drawn from data lacking sufficient external validity, so they should be interpreted with caution. Future paths for research and a summary on possible neurobiological underpinnings that might clarify the relationship between classical psychedelics and seizures are also provided.

Autoimmune autonomic ganglionopathy

An Australian woman has decided to end her life with medical assistance to “die on her own terms” after years of living with a rare and terminal neurological disease.

Annaliese Holland, 25, said she has been ill since she was a child, enduring repeated hospital stays as doctors tried to diagnose an illness that caused chronic pain, nausea and vomiting — and forced her to depend on IV feeding for the past decade, she told News.com.au.

She was diagnosed with autoimmune autonomic ganglionopathy, a rare autoimmune disease in which the body attacks the autonomic ganglia, the nerves responsible for controlling involuntary bodily functions, according to the Cleveland Clinic.

Years before her diagnosis, Holland’s bowels acted as if they were blocked, despite there actually being nothing stopping them.

Feeding tubes proved ineffective as she continued vomiting, and once doctors realized her stomach wasn’t emptying, they placed her on total parenteral nutrition, which supplies nutrients through an IV to bypass digestion.

“Because of the line straight into your bloodstream, if you get an infection, it turns to sepsis really quickly, which is very, very dangerous,” Holland said, adding that she has survived sepsis — a life-threatening reaction in which the body’s response to an infection damages its own tissues and organs — 25 times.

After doctors spent the majority of her young life trying to pinpoint what illness had been plaguing her, it wouldn’t be until Holland turned 18 and was transferred to an adult hospital that she would get an answer.

Holland said she had been told her condition was terminal when she turned 22.

Holland’s medications have weakened her bones to the point of severe osteoporosis, leaving her in constant pain and resulting in four spinal fractures, a fractured sternum, and nearly catastrophic pressure on her heart and lungs.

“I was so miserable,” Holland said. “You can’t change it so you have to just deal with it really. Even though there’s beautiful moments in my days, they are exhausting and long. I’m in chronic debilitating pain.”

Her illness has left her watching life race by from a hospital room, where she spent her 18th and 21st birthdays, as her friends now marry and start families.

“Everyone’s life is moving and I’m just stuck. I’m not living. I’m surviving every day, which is tough,” she said, noting that her disease feels like “walking on a field of landmines.”

“No man wants to date someone dying, I get it.”

Knowing that her life will end, the 25-year-old said she has decided to “die on my own terms” with voluntary assisted dying (VAD) — a legal option in Australia that provides terminally ill patients with self-administered life-ending medication.

She has watched life race ahead from her hospital room — where she spent her 18th and 21st birthdays — while her friends move on to marriages and families.

“Life for me now is getting up each day doing what I need to do medically, taking the painkillers, trying to get through the day, just to go to bed and do it all again,” she said.

“I have the most incredible team of doctors and nurses who have watched what I have been through and I told them I don’t want this anymore.”

While Holland appears at peace with the decision, her parents and sister are shattered by the idea.

“I remember talking to my dad in the kitchen one night and I said, ‘Dad, I’ve had enough.’ And he went, ‘So you’re giving up?’” she said.

She said the turning point for her father, Patrick, came when she was revived by doctors in the hospital and pleaded, “Dad, please let me go. I won’t hate you if you do.”

“I said, ‘If this happens again, I don’t want anything. And please know that in my heart, you letting me go and saying no to treatment … I’m happy with and that’s what I want,’” Holland said, fighting back tears.

“He turned to me and goes, ‘I don’t know how you do it and I totally understand that you’ve had enough.’”

Holland’s mom, Armanda, said she still hopes for a miracle, though she “realistically understands the challenges” her daughter faces.

Knowing that her life will end, the 25-year-old said she has decided to “die on my own terms” with voluntary assisted dying — a legal option in Australia that provides terminally ill patients with self-administered life-ending medication.

Following a three-week evaluation process, Holland was approved for VAD.

“I think it’s so weird to be happy, but I was so happy when I found out I was approved, I was crying,” she recalled.

“It’s hard because for me I am in pain and then I am at peace, but then I put the pain onto my family. You have this battle in your head of not wanting to hurt them so I will put some thought into how it will happen.”

Holland added that she’s “lucky that I do have this choice.”

“It’s one of the bravest things you could ever do, to say I want VAD. It’s not giving up. You’ve had enough and you fought bloody hard.”

Richard Pollina

https://nypost.com/2025/11/20/world-news/terminally-ill-australian-woman-annaliese-holland-to-die-on-own-terms-after-battling-rare-neurological-disease-her-entire-life/

Clinical, radiologic, and pathologic associations of executive dysfunction in children with focal cortical dysplasia–related epilepsy

Clinical, Radiologic, and Pathologic Associations of Executive Dysfunction in Children With Focal Cortical Dysplasia–Related Epilepsy. Nathan T. Cohen , Hua Xie, Venkata Sita Priyanka Illapani, Sonya M. Leikin, Xiaotong Li, Ana Moreno Chaza,,Chloe Hooker, L. Gilbert Vezina, Chima O. Oluigbo, Hayley J. Loblein, William D. Gaillard, Hayley J. Loblein, William D. Gaillard, Leigh N. Sepeta, and Madison M. Berl. Neurology. December 9, 2025 issue 105 (11) e214352 https://doi.org/10.1212/WNL.0000000000214352

Abstract

Background and Objective
Executive dysfunction (ExD) is a common comorbidity of focal epilepsy. Focal cortical dysplasia (FCD) is the most common lesional cause of epilepsy in children. We aimed to investigate clinical, etiologic (pathology), and anatomic vs functional network associations with ExD in FCD-related epilepsy. FCD lesion-network interactions may underlie ExD. The primary analysis was to evaluate whether FCD colocalization to frontoparietal control network or attention networks is associated with ExD. We also evaluated whether FCD type I pathology is associated with ExD because it is reported to be associated with worse intellectual function.

Methods
Patients with FCD were included from retrospective surgical/radiologic databases at Children's National Hospital from January 2000 to January 2022 if they had preoperative neuropsychological testing. FCD colocalization to the Yeo 7-network atlas was determined. Clinical, radiologic, and pathologic factors were evaluated for association with ExD. The primary outcome measure was ExD measured categorically (ExD/Not ExD) and linearly (Behavior Rating Inventory of Executive Function [BRIEF]-Global Executive Composite [GEC] T-score).

Results
Ninety-three patients with FCD (45% female) had preoperative BRIEF-GEC T-scores sampled at 11.4 years (SD 4.5 years). Control network colocalization (odds ratio [OR] 3.6, 95% CI 0.94–13.9, p < 0.05) and FCD type I (OR 4.45, 95% CI 1.39–14.3, p = 0.009) are associated with ExD (BRIEF-GEC T-score ≥65). Control network colocalization is associated with Cognitive Regulation Index (mean difference 8.3, 95% CI 0.7–15.9, p = 0.03) and Plan/Organize subscale (8.4, 95% CI 0.9–16.0, p = 0.028). FCD type I is associated with BRIEF-GEC T-score (8.3, 95% CI 2.3–14.2, p = 0.007), Cognitive Regulation Index (7.1, 95% CI 1.2–13.1, p = 0.019), Working Memory (7.4, 95% CI 1.2–13.6, p = 0.021), Plan/Organize (6.0, 95% CI 0.21–11.8, p = 0.042), Shift (8.1, 95% CI 1.6–14.7, p = 0.015), and Emotional Control (8.5, 95% CI 2.5–14.5, p = 0.006) subscales. These findings were not related to Full Scale IQ. FCD colocalization to attentional network (dorsal or ventral), lobar location, or age seizure onset was not associated with ExD.

Discussion
These data demonstrate the importance of lesion-network interaction in neuropsychological comorbidity (ExD) in focal epilepsy, unrelated to lesion size or lobar location. FCD colocalization to the Frontoparietal Control network is associated with ExD in a heterogeneous cohort of FCD-related epilepsy. A network-level structure-function correlation is suggested as the most affected processes of cognitive regulation (e.g., planning/organization) are domains regulated by this network. This work contributes toward a more unified theory of focal epilepsy, by beginning to explain common neuropsychological deficits seen across the epilepsies by cortical lesion-network interaction and regardless of lobar location.

Laryngeal cleft

A terrified Long Island mom’s quick-thinking but devastatingly painful choice helped save the life of her toddler son over the summer — and eventually revealed the exceptionally rare condition he suffers from.

“Picture breathing through a milkshake straw, then breathing through a regular straw, then trying to breathe through a coffee straw,” Maria Carlin, 36, recently told The Post of her 4-year-old Jack’s harrowing experience in late July.

“We got to a point where I said to myself, ‘It doesn’t get higher-pitched. … I know what comes next.’ [His breathing] just stopped.”

Carlin, a nurse at North Shore University Hospital, got her stricken son — who was previously undiagnosed — into the car and began driving to the medical facility after he had spent the night crying in agony without “a single symptom of anything.”

Jack suddenly lost all of his air halfway into the 10-minute drive, forcing his mom to make to an impossible choice: pull over to give him CPR or keep rushing to the hospital.

Carlin decided to continue to the ER, knowing immediate resuscitation wouldn’t be enough, given Jack would need rapid intubation among other urgent procedures.

“I heard him slump over. I went to look back, and God said, ‘Maria, don’t look back. You made your decision. You’re not going to be able to handle seeing him right now,’ ” she recalled, fighting back tears.

“Knowing that you have a child in the back of your car who’s not breathing and needs CPR and not doing that for them — I don’t wish that scenario on my worst enemy.”

Carlin made the critical decision to drive Jack to the hospital instead of stopping to give him CPR.

Carlin blared her car horn as she pulled up the car to the doors of ER, and a team of doctors and nurses flew into action over Jack, who was now in cardiac arrest and without a heartbeat.

“I just saw this lifeless kid who had no pulse, who looked blue,” said emergency-room Dr. Jennifer Gibb, who rushed to Jack after hearing Carlin “screaming.”

“I didn’t know she was a nurse at the time,” Gibb said of Carlin.

“I heard her saying, ‘Come on, Jack,’ and that’s my son’s name. It sends chills through your spine when you’re helping this little child that could be your own,” said Gibb of her own 11-year-old son.

Jack’s pulse returned after the doctors and nurses worked on him for almost 10 minutes.

“I can’t even explain what that feeling is like when you know that your child’s heart is beating again,” Carlin said.

Jack was transferred to Cohen Children’s Medical Center a few hours later.

“I’ve been working here for 13 years, and I really only had a pediatric arrest like that, maybe about five times,” Gibb said.

Further examinations showed he had a laryngeal cleft, which impacts between 10,000 and 20,000 annual births, according to Northwell.

“It’s an abnormal opening in the back of the voice box that separates the voice box from the esophagus,” said Dr. Lee Smith, Cohen’s chief of pediatric otolaryngology.

Mucus or fluids can block airflow as a result of the “extremely uncommon” occurrence.

The boy’s dire situation was even more incredibly unique, according to Smith, who later performed his corrective surgery with no complications.

“I’ve never seen that before. … This was an extremely unusual and severe presentation,” Smith said of the boy losing lethal amounts of air.

Jack is now a happy, healthy pre-K-enrolled kid who, along with his mom, dad and siblings Luke and Emma, makes up a family incredibly grateful to the frontline workers who brought about their happy ending.

“The survival rate of a child going into cardiac arrest outside of a hospital is terrifyingly low,” Carlin said.

“After everything happened, I turned to my husband, and I was just like, ‘We’re going to Disney World. This child is going to experience Disney World.’ “8Jack told The Post he enjoyed his vacation and is happy in pre-K.

The Carlin family just returned from the Happiest Place on Earth, where Jack and his siblings and their dad Stewart got their fill of the magic they deserve after the mid-summer ordeal.

“I really liked the Slinky ride,” Jack told The Post.

“And I love being in school.”

Alex Mitchell

https://nypost.com/2025/11/19/us-news/li-moms-impossible-decision-saves-lifeless-child-and-reveals-exceptionally-rare-condition/

Skeletal muscle MRI patterns in female dystrophinopathy carriers

Vigliano AP, Luce L, Pastor Rueda JM, Chaves H, Mesa L, Carcione M, Mazzanti C, Llames Massini C, Radic CP, Cejas C, Giliberto F. Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers. Neurol Genet. 2025 Sep 30;11(5):e200301. doi: 10.1212/NXG.0000000000200301. PMID: 41048923; PMCID: PMC12488845.

Abstract

Background and objectives: Dystrophinopathies are X-linked recessive diseases caused by pathogenic variants in the Duchenne muscular dystrophy (DMD) gene. Some women carrying a single DMD pathogenic variant manifest variable levels of symptomatology. Those who manifest severe and early-onset symptoms are considered to be affected by dystrophinopathy rather than carriers. The aim of this study was to characterize and compare muscle structure between female DMD carriers who were asymptomatic at the time of the study and female control participants using whole-body MRI (WB-MRI) and correlate the findings with clinical and genetic data.

Methods: We conducted a cross-sectional observational study comparing a group of female carriers of DMD pathogenic variants and a group of healthy noncarrier controls. The first group included obligate and genetically confirmed DMD female carriers, not classified as having dystrophinopathy. Women in the healthy group had no family history of DMD or other muscular dystrophies. All individuals underwent WB-MRI, which was evaluated using qualitative grading scales to assess muscle edema, trophism, and fatty infiltration. Neurologic examinations, serum creatine kinase measurement, DMD genetic screening, and X-chromosome inactivation studies were performed on the DMD carriers.

Results: The study included 29 DMD female carriers and 30 healthy noncarrier controls. All DMD carriers showed signs of muscle involvement on MRI, revealing a larger proportion of skeletal muscle involvement in carriers than in controls (85% vs 27% of 48 examined muscles/group of muscles, p < 0.001). Edema, fatty infiltration, and atrophy were more common in DMD carriers (62.5% vs 8%; 81% vs 35%; and 81% vs 25%, respectively, all p < 0.001), particularly in muscles of the calves, thighs, and pelvic region. The most frequently affected muscles were gastrocnemius, gluteus maximus, and soleus. No correlations were found between the MRI results and the clinical and genetic data.

Discussion: Our findings indicate that DMD female carriers who are asymptomatic at the time of our study may be at risk of developing muscle symptoms at a future time. Multidisciplinary surveillance of DMD female carriers will facilitate early detection and management of complications.