Scurvy in a child with autism following a ketogenic diet

"We report a case of a 5-year-old patient with autism, who presented with scurvy secondary to the dietary restrictions of a ketogenic diet."

That was the aim of the paper by Syed Amir Ahmad and colleagues [1] who continue an important theme in autism research and clinical practice circles pertinent to the seeming over-representation of illnesses of malnutrition in relation to autism (see here).

The 'value added' bit to the Ahmad findings is the observation that scurvy - a disease caused by insufficient vitamin C in the diet - was seemingly present as a result of "the dietary restrictions of a ketogenic diet" (where a ketogenic diet represents a high fat, low carbohydrate eating schedule). I assume said diet was put in place in light of some previous research suggesting that a ketogenic diet (KD) may be 'useful' for some children on the autism spectrum (see here and see here) from a behavioural perspective or where indicated following the detection of an inborn error of metabolism for example.

Scurvy is something of a pet topic on this blog (see here and see here). Described as a rare disease, the growing [research] literature on autism and scurvy indicates that it is perhaps not as rare as many people think or would like it to be. One of the big issues in this area is that more screening needs to be done for scurvy in relation to a diagnosis of autism, particularly when children (and adults) on the autism spectrum might have a limited or restricted diet (see here).

"This case emphasizes the importance of vitamin supplements in patients consuming a special diet." I wholeheartedly agree with that conclusion made by the authors. I say this in the context that supplementation with various vitamins, minerals and nutrients where autism is present and a 'special diet' is being followed is already a good idea (see here). The fact that some of those nutrients being supplemented might themselves have an 'effect' of on the behaviour of some children (see here and see here for examples) is also something important to mention.

the bottom line: screen and keep screening for health issues like scurvy when autism is diagnosed.

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[1] Ahmad SA. et al. Florid Scurvy in an Autistic Child on a Ketogenic Diet. Pediatr Emerg Care. 2018 Nov 19.

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Autism research really needs to study the prevalence and treatment of scurvy in autism

The results published by Melinda Saavedra and colleagues [1] describing another case report where scurvy was [eventually] diagnosed as appearing alongside autism represents yet another 'call to action' on this topic.

I've covered this issue quite a few times before on this blog (see here and see here and see here), and quite frankly it's reached the point where autism research really needs to step up and formally study the prevalence of scurvy in relation to autism. Indeed given the almost universal reports of medical science not initially recognising that scurvy can be no stranger to autism, the time has also come to "announce [to] the pediatrician and other professionals dedicated to primary health care about scurvy as a potential consequence of restrictive diets in children with autism spectrum disorders."

This time around the clinical focus was on a 4 year old boy who was brought to clinical attention as a result of "hip pain and refusal to walk, associated with petechiae and bruising of the lower limbs." The clues were all there that scurvy could be a cause of such symptoms, but it was only when it was revealed that the child had "selective feeding habit" that the penny seemed to finally drop. Indeed: "Levels of Vitamin C in blood were measured and without waiting for results he started treatment with 300 mg per day of ascorbic acid." Lo and behold, his vitamin C results were found to be low, and vitamin C supplementation eventually did the trick. Of vital importance, the pain associated with scurvy also showed improvement and he was discharged from clinical care with a maintenance dose of vitamin C and some nutritional advice.

'Selective feeding patterns', 'picky eating' or whatever you want to call it, is an issue that is not stranger to autism (see here). It's reasonable to assume that where such feeding issues continue into the longer-term, and dependent on what foods are consumed as part of such a restrictive pattern, there are likely to be biological consequences for the person concerned as a function of what nutritional inadequacies follow. Indeed, I daresay that such a pattern follows what is being noticed in connection with other food-related conditions in the longer term (see here). Set in this context, a lot more research and importantly, clinical practice, needs to focus on the hows-and-whys of such behaviours and their remediation. There is no longer any excuse for allowing diseases of the past such as scurvy and also others like rickets, to plague the children of today, vulnerable children of today, where healthy food in most parts of the world, is not in short supply.

Oh, and bear in mind that 'picky eating' might not be the only reason why scurvy might appear alongside autism [2]. We need lots more data.

And also, as I write this [3]...

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[1] Saavedra MJ. et al. Scurvy due to restrictive diet in a child with autism spectrum disorder: case report. Arch Argent Pediatr. 2018 Oct 1;116(5):e684-e687

[2] Hasan Al-Breiki S. et al. Scurvy as the tip of the iceberg. Journal of Dermatology & Dermatologic Surgery. 2014; 18: 46-48.

[3] Caldwell KJ. et al. Child With Autism and a Limp. Ann Emerg Med. 2018 Oct;72(4):493-495.

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Scurvy and autism yet again...

"Here, we report a case of pediatric scurvy in an 11-year-old autistic child with a restricted diet who presented with refusal to walk, fatigue, a purpuric rash, and gingival bleeding."

Yep, the topic is scurvy and autism surfaces again on this blog (see here and see here and see here for other blogging entries), and yet another case report [1] illustrating how a disease that should really have been banished at least a century ago very much remains a part of modern medicine in some circumstances.

In case you didn't already know, scurvy is a disease of nutrition. A chronic lack of vitamin C (ascorbic acid), pretty vital for the synthesis and upkeep of collagen for example, leads to a variety of symptoms including weakness, fatigue, joint pain and perhaps most famously, bleeding gums (gingival bleeding). Vitamin C is present in many fruits and vegetables or can even be delivered as a supplement. Indeed, some pretty famous people have extolled the virtues of regular vitamin C consumption (see here) albeit with varying degrees of successful results outside of scurvy prevention or treatment.

As I mentioned, scurvy appearing alongside autism is not a novel finding. Restricted feeding patterns exemplified by the inclusion of a small repertoire of foods seems to be THE primary risk factor when it comes to scurvy following a diagnosis of autism. As far as I am aware, once the hurdle of actually diagnosing scurvy has been overcome, treatment with vitamin C supplementation seems to be able to resolve many symptoms pretty quickly both inside and outside the context of autism.

What's more to do in this area? Well, as I've mentioned before, screening for scurvy should perhaps be a lot more commonplace following a diagnosis of autism. Given that restricted feeding patterns - not necessarily including any special diets that are put in place for clinical reasons - are pretty frequent in relation to autism, there's a big case for further examinations for scurvy to be more widespread. Minus any clinical or medical advice being given or intended, use of nutritional supplements in the context of restricted feeding habits and autism might also be a sensible option given potential issues outside of just those linked to vitamin C (see here). Obviously this requires some clinical input to ensure that the right dose and preparation is given, but given the quite painful effects of something like scurvy, the question is: why should a diagnosis of autism be a barrier to sound health and wellbeing?

And as I write, there is yet more [2] appearing on this topic, and yet again treatment with vitamin C led to "rapid improvement"...

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[1] Burhop J. et al. Do You C What I C: Emergency Department Evaluation and Diagnosis of Pediatric Scurvy in an Autistic Child With a Restricted Diet. Pediatr Emerg Care. 2018 Jan 23.

[2] Kinlin LM. et al. Scurvy as a mimicker of osteomyelitis in a child with autism spectrum disorder. International Journal of Infectious Diseases. 2018. Feb 6.

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From limp to scurvy in the context of autism

"A panel of nutritional markers was sent, and a presumptive diagnosis of scurvy was made."

So said the case report detailed by Adam Yan and colleagues [1] as, yet again (see here and see here), the topic of scurvy in the context of autism appears in the peer-reviewed science literature. Scurvy, a condition affecting various tissues of the body, comes about as a result of a lack of adequate vitamin C in the diet. It's thought of as a rare disease nowadays, following on from some 'limey' historical observations (see here).

I say that scurvy is a rare disease, but as per the other blogging occasions when it's received attention, for those diagnosed on the autism spectrum it's not as rare as it should be. Indeed, even Yan et al note that "scurvy is increasingly identified in children with ASD [autism spectrum disorder] and developmental delay who consume restrictive diets, often lacking in fruits and vegetables." Their case report highlights how clinicians need to be observant...

The subject of the Yan case report was a young boy diagnosed with autism who was described as non-verbal. He came to clinical attention following "a 2-week history of limp and oral mucosal bleeding." Unfortunately, his first contact with medical professionals resulted in less-than-revealing typical test results that meant he was discharged with "a referral to dentistry to address the oral mucosal changes." Things did not improve. He presented again to hospital, this time "with new onset of fevers for 1 week, ongoing limp that had progressed to complete refusal to weight bear, and persistent bleeding from his oral mucosa." This second time a few more investigations were ordered and a very (VERY) low level of vitamin C (ascorbic acid) was detected: "The low ascorbic acid level confirmed the diagnosis of scurvy with a concomitant diagnosis of anemia." Treatment in the form of vitamin C and an iron supplement (alongside a multivitamin) did the trick in terms of the limp/leg problem and bleeding gums.

What are the lessons from this case report? Well, yet again, the realisation that issues such as those related to feeding problems present quite widely in relation to autism (see here) and can very much impact on health is paramount. Indeed, it should really be part of standard medical care to monitor and keep monitoring children in particular, with a diagnosis of autism to ensure that their nutritional needs are being met in many areas (see here). If they're not, supplement (under appropriate medical guidance) and don't be afraid to do so, keeping in mind that each person/child is different (see here).

I'm also minded to mention that when medical and other allied healthcare practitioners are faced with a child/adult with autism that is non-verbal and presenting with 'symptoms', the onus really should be on medicine to turn investigator to find out 'hows-and-whys' rather than discharging with a 'we don't know' sentiment. I say this in the context that a diagnosis of autism is seemingly not protective against any other condition/label/disease occurring, and noting other, more catastrophic, examples where this has happened (see here). And minus any sweeping generalisations, a few correctly framed questions can sometimes be enlightening [2] for all-manner of different issues pertinent to autism...

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[1] Yan A. et al. Limp in a Child With Autism Spectrum Disorder. Global Pediatric Health. 2017. Nov 30.

[2] Cohen S. et al. Sleep patterns predictive of daytime challenging behavior in individuals with low-functioning autism. Autism Res. 2017 Dec 1.

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Scurvy and autism continued

"Scurvy as a Manifestation of Food Selectivity in Children with Autism" read the title of the paper by Nina Ma and colleagues [1] continuing a topic of some interest to this blog regarding the need for more research and practical focus on nutritional insufficiency and deficiency when it comes to the label of autism (see here for example).

As per other occasions when scurvy - a condition linked to a deficiency of vitamin C - has been talked about in the context of autism (see here), the Ma paper continues an all-too familiar theme of how "a long-standing history of food selectivity" when it comes to at least some autism, can have some pretty serious onward health implications (see here). Alongside reporting on how "an elaborate panel of tests and procedures were undertaken before the diagnosis of scurvy was made" in seven children, all of whom had a developmental disorder, Ma et al highlight how vitamin C treatment "led to rapid recovery of symptoms." Without doing a Linus Pauling special on the wonders of vitamin C (accepting that in some respects he might not have been too far off the mark) I would draw your attention to some very preliminary work looking at vitamin C supplementation (sorry, ascorbic acid) with autism in mind [2].

That none of the children included in the Ma study "were supplemented with a multivitamin" at the time of their clinical evaluation is also relevant, especially in light of some rather sweeping generalisations made about other autism research on the use of dietary/nutritional supplementation and autism (see here). Certainly, what this and other related research suggests is that (a) a diagnosis of autism may indeed place someone at risk of certain dietary or nutritional issues and (b) appropriate screening should be in place to mitigate any potential health effects from such dietary-related problems. Oh, and just in case you were wondering, the horror that is a gluten- and casein-free (GFCF) diet when done correctly, is probably not to blame for cases of scurvy in relation to autism (see here)...

Music: Nothing But Thieves - Trip Switch.

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[1] Ma NS. et al. Brief Report: Scurvy as a Manifestation of Food Selectivity in Children with Autism. J Autism Dev Disord. 2015 Nov 21.

[2] Dolske MC. et al. A preliminary trial of ascorbic acid as supplemental therapy for autism. Prog Neuropsychopharmacol Biol Psychiatry. 1993 Sep;17(5):765-74.

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Ma NS, Thompson C, & Weston S (2015). Brief Report: Scurvy as a Manifestation of Food Selectivity in Children with Autism. Journal of autism and developmental disorders PMID: 26590972

Extremes of a self-limiting diet in autism

I'll draw your attention to three papers in today's post which represent the extremes of where self-imposed dietary restrictions can potentially lead in relation to the autism spectrum disorders (ASDs). Issues with diet - outside of use of diet as an intervention measure - are something which have been talked about quite a bit in the autism research literature (see here).

"You look like a gangster"

The first paper by Baird & Ravindranath [1] describes a case report of an 11-year old with autism who became "critically ill" as a consequence of a diet exclusively limited to a single fast food, "a particular type of fried chicken". Liver dysfunction and "severe lactic acidosis" were listed as clinical findings ascribed to a diet "deficient in multiple micronutrients, including the B vitamins thiamine and pyridoxine". The authors reported some resolution of symptoms as and when B vitamin supplements were given including positive changes to "status epilepticus-with low serum pyridoxine- [which] resolved rapidly with pyridoxine". I might add that issues with lactate, elevated in lactic acidosis, are no stranger to autism research (see here and see here).

The second paper comes from Gulko and colleagues [2] and talks about "MRI findings of scurvy in four patients with autism or developmental delay". Scurvy, a condition characterised by a lack of vitamin C, is something which has cropped up before on this blog (see here) and as per the Gulko findings: "Despite its rarity, the radiologist must consider scurvy in a pediatric patient with a restricted diet presenting with arthralgia [joint pain] or myalgia [muscle pain]".

The final paper comes from Keown and colleagues [3] and describes the experiences of a young boy "identified to have a restricted diet" characterised among other things by consumption of "excessive quantities of carrot juice". As a result: "Blood investigations showed a raised serum carotene level and vitamin D deficiency". Vitamin D is something of an emerging area in relation to autism (see here).

Combined, these papers suggest yet another set of physiological variables which may require further clinical scrutiny as and when a child or adult presents with an ASD particularly where diet is mentioned as potentially being an accompanying issue. As per the findings from Marshall and colleagues [4], finding appropriate strategies to increase food variety (and not just food volume) remains an area in some need of further research.

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[1] Baird JS. & Ravindranath TM. Vitamin B Deficiencies in a Critically Ill Autistic Child With a Restricted Diet. Nutr Clin Pract. 2014 Aug 11. pii: 0884533614541483.

[2] Gulko E. et al. MRI findings in pediatric patients with scurvy. Skeletal Radiol. 2014 Aug 12.

[3] Keown K. et al. Nutritional implications of selective eating in a child with autism spectrum disorder. BMJ Case Rep. 2014 Mar 20;2014. pii: bcr2013202581.

[4] Marshall J. et al. Efficacy of interventions to improve feeding difficulties in children with autism spectrum disorders: a systematic review and meta-analysis. Child Care Health Dev. 2014 Jun 25.

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Baird JS, & Ravindranath TM (2014). Vitamin B Deficiencies in a Critically Ill Autistic Child With a Restricted Diet. Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition PMID: 25112945



Gulko E, Collins LK, Murphy RC, Thornhill BA, & Taragin BH (2014). MRI findings in pediatric patients with scurvy. Skeletal radiology PMID: 25109378




Keown K, Bothwell J, & Jain S (2014). Nutritional implications of selective eating in a child with autism spectrum disorder. BMJ case reports, 2014 PMID: 24654242

Scurvy, vitamin C and autism

I'd been thinking about writing this post on scurvy, vitamin C and autism for quite a while. The paper by Kitcharoensakkul and colleagues [1] really made the decision for me, following their discussions on three young children with walking difficulties who were eventually diagnosed with scurvy, one of whom was diagnosed with autism. The authors concluded: "These clinical manifestations and radiologic findings highlight the importance for rheumatologists to have a higher index of suspicion for scurvy in nonambulatory children". Nonambulatory by the way, means not able to walk about (independently). "Interestingly, all patients had concomitant vitamin D deficiency" was another important point made in the Kitcharoensakkul study which is something I'm always a little interested in on this blog (see here).

Limes... @ Fludkov @ Wikipedia 

Scurvy, as some people might already know, is a condition characterised by a lack of sufficient vitamin C (ascorbic acid). It can manifest in a variety of ways including fatigue, lack of appetite, irritability alongside various functional gastrointestinal (GI) symptoms. Gingival swelling or bleeding (the gums) is perhaps one of the best known [oral] signs of the disease. Nowadays it is quite a rare condition.

In other blog entries I've referred to myself as a Limey reflective of a slang phrase for someone from these hallowed Isles called Great Britain (Britain, Britain, Britain..), which seems to derive from the practice of giving lime juice to British sailors way back when, to prevent scurvy.

Suffice to say however that the Kitcharoensakkul paper is not the first time that scurvy has appeared alongside the word autism or words autism spectrum disorder (ASD) as I'll attempt to show you...

• Case studies describing scurvy concurrent to a diagnosis of autism can be found in the peer-reviewed research literature [2]. The description by Mawson [3] is typical although some symptoms reported in that particular case as being perhaps complicated by "treatment with indomethacin, which lowers vitamin C levels" is an important addition. I do think it is important to raise the point that some medicines can interfere with the availability of things like vitamins and minerals similar to such nutraceuticals affecting some medicines.
• Cole and colleagues [4] talked about the continued presence of scurvy "among susceptible populations" which includes "certain unique populations-particularly the elderly subjects, patients with neurodevelopmental disabilities or psychiatric illnesses, or others with unusual dietary habits" in their report on a "10-year-old autistic child". 'Unusual' dietary patterns are no stranger to autism [5] (open-access here) over and above any special dietary regimes being implemented (see here).
• Congidi and colleagues [6] described another case of scurvy in "an autistic child with food-avoidant behavior". They also described MRI findings for their patient. Indeed, this is something also described in the report by Tetsu and colleagues [7] who reported that the: "imaging findings of the thigh showed diffuse signal abnormality in the bone marrow, periosteum, and the femoral muscle". Further: "A biopsy specimen of the femur showed hematoma, proliferative fibroblasts, and few collagen fibers, which suggested a deficiency of vitamin C".
• Slightly outside of the issue of scurvy is the study presented by Dolske and colleagues [8] "exploring the effectiveness of ascorbic acid (8g/70kg/day) as a supplemental pharmacological treatment for autistic children in residential treatment". Although this was a small trial in terms of participant numbers, it was a "double-blind, placebo-controlled trial" lasting 30 weeks. The authors reported "a reduction in symptom severity associated with the ascorbic acid treatment" making specific mention of "sensory motor scores". Obviously I'm not making any recommendations about these findings (no medical or clinical advice given or intended) but do find them to be interesting and perhaps overlapping with other research where vitamin C supplementation has been included. So, think back to the Jim Adams trial data (see here) based on some older research [9]. As to the hows and whys, well, unlike the chatter about vitamin C therapy potentially impacting on Epstein-Barr antibodies no biological measure was used in the Dolske study so we are left speculating...

As you've probably realised, most of the research evidence surrounding the presence of scurvy in cases of autism is based on individual case reports. I can't for example, provide you with any population estimates of how prevalent scurvy might be in cases of autism because no-one has really looked at this issue with any great assiduity. I can point you in the direction of other work talking again about cases of scurvy appearing alongside schizophrenia for example [10] but will only say that a poor diet lacking in sources of vitamin C is as much to blame in those examples as it probably is where cases of autism are discussed.

Just before I go, there are a few other things to note about vitamin C and autism which may also be pertinent to other issues. I've talked about iron before on this blog and how there is some data suggesting issues with iron for some on the autism spectrum (although certainly not all). It's quite long been recognised that vitamin C also plays a role in the absorption of iron [11] particularly non-heme iron sources and a deficiency in vitamin C is probably not going to be conducive to 'optimal' function. Quite a while back I also talked about autism and oxalates (see here) but will say no more than re-iterating the study by Chai and colleagues [12] with the requirement for lots more investigation in this area.

To close, I was saddened to hear of the death of Prof. Paul Patterson this week, a real research pioneer who's studies on autism and schizophrenia were frequently discussed on this blog (see here and see here). One of his final research contributions was the very important study fronted by Elaine Hsiao supporting a "gut-microbiome-brain connection in a mouse model of ASD". My condolences go to his family and those who knew him.

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[1] Kitcharoensakkul M. et al. Scurvy revealed by difficulty walking: three cases in young children. J Clin Rheumatol. 2014 Jun;20(4):224-8.

[2] Monks G. et al. A case of scurvy in an autistic boy. J Drugs Dermatol. 2002 Jul;1(1):67-9.

[3] Mawson AR. Bone pain, growth failure, and skin rash after an upper respiratory illness in a boy with autism: possible association with altered retinoid metabolism. Clin Pediatr (Phila). 2009 Jan;48(1):21-5.

[4] Cole JA. et al. Scurvy in a 10-year-old boy. Pediatr Dermatol. 2011 Jul-Aug;28(4):444-6

[5] Bandini LG. et al. Food selectivity in children with autism spectrum disorders and typically developing children. J Pediatr. 2010 Aug;157(2):259-64.

[6] Gongidi P. et al. Scurvy in an autistic child: MRI findings. Pediatr Radiol. 2013 Oct;43(10):1396-9.

[7] Tetsu N. et al. curvy in a Child With Autism: Magnetic Resonance Imaging and Pathological Findings. Journal of Pediatric Hematology/Oncology. 2012; 34: 484-487.

[8] Dolske MC. et al. A preliminary trial of ascorbic acid as supplemental therapy for autism. Prog Neuropsychopharmacol Biol Psychiatry. 1993 Sep;17(5):765-74.

[9] Adams JB. & Holloway C. Pilot study of a moderate dose multivitamin/mineral supplement for children with autistic spectrum disorder. J Altern Complement Med. 2004 Dec;10(6):1033-9.

[10] Dubé M. Scurvy in a man with schizophrenia. CMAJ. Aug 9, 2011; 183(11): E760.

[11] Hallberg L. et al. The role of vitamin C in iron absorption. Int J Vitam Nutr Res Suppl. 1989;30:103-8.

[12] Chai W. et al. Oxalate absorption and endogenous oxalate synthesis from ascorbate in calcium oxalate stone formers and non-stone formers. AJKD. 2004; 44: 1060-1069.

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Kitcharoensakkul M, Schulz CG, Kassel R, Khanna G, Liang S, Ngwube A, Baszis KW, Hunstad DA, & White AJ (2014). Scurvy revealed by difficulty walking: three cases in young children. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, 20 (4), 224-8 PMID: 24847751