Frederick Batten (1865-1918): father of paediatric neurology

Abstract

Frederick Batten made many major contributions to neurology and rehabilitation. He was one of a group of eminent physicians at Queen Square in the Edwardian period and devoted his energies to paediatric neurology. Amongst many published works his papers on familial ‘Cerebral degeneration with symmetrical changes in the maculae’ (Batten’s disease), subacute combined degeneration of the cord, and dystrophia myotonica are highlighted and summarised.

Keywords – Paediatric neurology; Batten’s disease; Neuronal Ceroid Lipofuscinoses; Subacute Combined Degeneration Of The Cord; Dystrophia Myotonica.

If you had passed through the portals of Queen Square in the Edwardian period spanning World War 1, you would have been confronted if not greeted by a group of eminent physicians. One such often called the “father of paediatric neurology” was Frederick Batten*, who made many major contributions to neurology and rehabilitation.

He was born in Plymouth, son of JW Batten, QC, and his wife Sarah. He attended Westminster School and Trinity College, Cambridge, and graduated in medicine in 1891 from St Bartholomew’s Hospital. He obtained his MD in 1895 and became FRCP in 1901. He was appointed Physician to the National Hospital for the Paralysed and Epileptic (pathologist, 1899; physician, 1900–1918; dean, 1908–1918) and to the Children’s Hospital, Great Ormond Street. Both he served until his early death. Amongst 106 published papers three are of particular interest:

1. Family cerebral degeneration with macular change: Batten’s disease;

2. Subacute combined degeneration of the cord (SACD); and

3. Myotonia atrophica (Dystrophia myotonica).

Batten’s disease

Batten described two cases in 1903 [1,2], from the Hospital for Sick Children. The original description has been attributed to Otto Christian Stengel (1794-1890), who in 1826 described from Røros in Norway, a “singular illness” affecting four children of a local family [3]. Interestingly Batten cited an earlier 1897 study [4] on familial macula degeneration by his brother Rayner D Batten, but with hindsight, there was no mental defect and no cerebral involvement. Frederick Batten described symmetrical changes in the maculae in two members of a family (see pedigree below) with cerebral degeneration starting about the age of six, now known as Batten’s disease. Batten’s disease is a group of rare inherited autosomal recessive disorders that present in childhood with retinal and cerebral degeneration and terminate fatally. It is characterised by the intracellular accumulation of autofluorescent lipopigment storage material with different ultrastructural patterns. He described clinical features including visual impairment resulting in blindness; epilepsy; myoclonic jerks; impaired speech, language and swallowing; and deterioration of motor skills that result in immobility. The afflicted child becomes totally dependent and death occurs in childhood or early adult life. It is the most common form of the Neuronal Ceroid Lipofuscinoses (NCLs), linked to the CLN3 gene [5]. Historically, the NCLs were classified by age of onset as infantile, late infantile, juvenile or adult NCL. Juvenile NCL has also been called: Vogt-Spielmeyer disease, and Spielmeyer-Sjogren disease, but Batten’s disease is often used generically. Each variant has differences in the rate of progression and clinical features. Treatment is of no avail save for cerliponase alfa (Brineura) which may slow the progression of children with CLN2, the late infantile variant. Batten’s principal contribution was his recognition of the recently described neuronal storage diseases, and to realise his syndrome differed from Waren Tay-Sach’s disease: The difference lies in (1) the absence of race proclivity; (2) the absence of the characteristic macular change; (3) the difference of age. What the nature of the poison may be … is a problem yet to be solved [6].

Subacute combined degeneration of the cord (SACD)

Though described first by Leichtenstern in 1884 [7], and by Putnam [8] and Dana [9] in 1891 the most comprehensive account was in a 70-page paper written by Batten with Risien Russell and Collier (Figure 2) [10].

They described nine patients with autopsies in seven. The illness was in three stages of progressive paraplegia with ataxy and sensory loss in the lower limbs culminating in complete paraplegia; absent knee jerks; anaesthesia; wasting, and double incontinence. In respect of the recognised association with pernicious anaemia they noted: ‘… Some of the most typical cases presented no anaemia throughout the course … others only late in the disease, while in other cases anaemia was an obtrusive symptom from the first and preceded the nervous symptoms by many months.’ They also observed that nomenclature was a problem: ‘A name other than ‘‘combined degeneration’’ would undoubtedly do much to establish the affection as a distinct morbid entity, … in consequence of the fact that so many different diseases of the spinal cord are characterised by combined degeneration of tracts of different function.’ Leichtenstern, Putnam and Dana had all noted an association with anaemia, and Lichtheim specified pernicious anaemia [11]. Many years later were shown the causal cobalamin Vitamin B12 deficiency present in raw liver (Whipple Minot, Murphy, 1926, Nobel prize 1934 [12]) and the associated deficiency of intrinsic factor needed for cobalamin absorption.

Dystrophia myotonica

Batten and Gibbs also provided one of the earliest detailed accounts of Dystrophia myotonica under the title of myotonia atrophica, published in 1909, the same year as Steinert’s paper [13]. Charles Dana had described the syndrome in 1888 [14]. The salient features that Batten and Gibbs observed were:

…A group of cases which present the rare association of muscular atrophy with a slow relaxation of muscles after voluntary contraction. The muscular atrophy has a distribution which is peculiar and corresponds to none of the well known types of myopathy. [15]

They recognised the disease as an entity distinct from Thomsen’s myotonia congenita and their paper includes the first photograph unmistakably portraying the disease. The association with cataracts was not noted until Greenfield’s accounts of 1911 and 1923 [16,17]. It is now recognised as autosomal dominant DM1, with Cytogenetic locations: 19q13.32., typically showing: myotonia, myopathy, cataracts, hypogonadism, frontal balding, and ECG changes.

As a children’s physician, Batten ‘was in the first rank.’ [18] In 1913, with Sir Archibald Garrod and Thursfield he published a well-known textbook on Diseases of Children. In his Lumleian lectures at the Royal College of Physicians and re-published in Brain, June 1916, Batten detailed the features of poliomyelitis [19]. His research was both clinical and pathological. He published several papers on progressive spinal muscular atrophy of infants (Werdnig-Hoffmann type) and on poliomyelitis (infantile paralysis); he devised corrective celluloid splints [20,21]. Fittingly, in 1952 the intensive care unit for patients with respiratory paralysis at the National Hospital was named the Batten Unit in his honour.

His last communication was on epidemic stupor, jointly with his friend and renowned paediatrician, Sir George Frederick Still (1868-1941) [22]. Sir Gordon Holmes (1876–1965) recalled:

Batten’s approach was scientific…interpret[ing] symptoms as disturbances of function and determin[ing] the changes in structure . . . to which they were due. His honesty, simplicity and directness impressed all who came in contact with him’. [19]

His students knew him as ‘Freddie’. He was described by TT Higgins as:

a brisk, lithe figure with a conspicuous domed head and lively eye, quick, tumbling speech … and an intense interest in current affairs, but first and foremost concerned with the well-being of his patients and the parents, relatives, nurses and doctors who administered to them.’ [23]

Known as a perfectionist, disliking sloppiness and indecision, he nonetheless was considered lovable, modest, genial, and tolerant. Batten died aged only 52 from haemorrhage following surgery for prostatic obstruction.

*Amongst his colleagues were: T Buzzard, H Charlton Bastian, Sir David Ferrier, Sir WR Gowers, JA Ormerod. Howard H Tooth, Tames Taylor, JS Risien Russell, W Aldren Turner, JS Collier, E Farquhar Buzzard, T Grainger Stewart, Gordon M Holmes, CM Hinds Howell, and SA Kinnier Wilson.

References

1. Batten FE. Cerebral degeneration with symmetrical changes in the maculae in two members of a family. Transactions of the Ophthalmological Societies of the United Kingdom 1903;23:386-90.
2. Batten FE. Family cerebral degeneration with macular change (so-called juvenile form of family amaurotic idiocy). Quart. J. Med 1914;7:444-53.
3. Stengel OC. Beretning om et mærkeligt Sygdomstilfelde hos fire Sødskende i Nærheden af Røraas, Eyr Med. Tidskr. 1 1826; 347-352. Cited in 5.
4. Batten RD. Family cerebral degeneration with macular change. Trans.Ophthal. Soc.U.K 1897;XVII:48.
5. Mole S, Williams R, Goebel H. The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press. 2nd edition, 2011. https://doi.org/10.1093/med/9780199590018.001.0001
6. Batten FE, Mayou MS. Family Cerebral Degeneration with Macular Changes. Proc. Roy. Soc. Med. Section of ophthalmology 1915;70-87. https://doi.org/10.1177/003591571500801624
7. Pearce JMS. Subacute combined degeneration of the cord: Putnam-Dana syndrome. Eur Neurol. 2008;60(1):53-6. Epub 2008 May 16. https://doi.org/10.1159/000131715
8. Putnam JJ. A group of cases of system scleroses of the spinal cord, associated with diffuse collateral degeneration; occurring in enfeebled persons past middle-life, and especially women; studied with particular reference to etiology. J Nerv Ment Dis 1891;16:69-110. https://doi.org/10.1097/00005053-189102000-00001
9. Dana CL. The degenerative diseases of the spinal cord, with the description of a new type. J Nerv Ment Dis 1891;18:205-16. https://doi.org/10.1097/00005053-189104000-00001
10. Russell JSR, Batten FE, Collier J. Subacute Combined Degeneration of the Spinal Cord. Brain 1900;23:39-110. https://doi.org/10.1093/brain/23.1.39
11. Lichtheim L. Zur Kenntnis der perniziösen Anämie. Scweiz Med Wochenschr 1887;34:300.
12. Minot GR, Murphy WP. Treatment of pernicious anemia by a special diet. JAMA 1926; 87:470-476. See also: http://www.nobelprize.org/nobel_prizes/medicine/laureates/1934/murphy-lecture.html https://doi.org/10.1001/jama.1926.02680070016005
13. Steinert H. Myopathologische Beiträge. I. Ueber das klinische und anatomische Bild des Muskelschwunds der Myotoniker. Dtsch Z Nervenheilk 1909;37:58-104. https://doi.org/10.1007/BF01671719
14. Dana CL. An atypical case of Thomsen’s disease. Med Rec 1888;33:433-5.
15. Batten FE, Gibb HP. Myotonia atrophica showing a peculiar Distribution of Muscular Atrophy. Brain, Oxford, 1909;32:187-205. https://doi.org/10.1093/brain/32.2.187
16. Adie WJ, Greenfield JG. Dystrophia Myotonica (Myotonia Atrophica). Brain 1923;46:73-127. https://doi.org/10.1093/brain/46.1.73
17. Pearce JMS. Steinert’s Disease: Dystrophia Myotonica, In: Fragments of Neurological History. London Imperial College Press. 2003:468-72.
18. Munk’s Roll. Lives of the Fellows of the Royal College of Physicians of London, Vol IV (1826-1925). Compiled by GH Brown. London: Published by the College. 1955. p. 425 : Frederick Eustace Batten.
19. Compston A. From The Archives [BRAIN 2016:139;1615-20]. Acute poliomyelitis. By F. E. Batten MD Cantab FRCP Lond. The Lumleian Lectures for 1916 delivered before the Royal College of Physicians. Brain 1916; 39: 115-211.
20. Batten FE. Acute poliomyelitis. Brain 1916;39.1-2:115-211. https://doi.org/10.1093/brain/39.1-2.115
21. Batten FE. The use of celluloid splints in the treatment of cases of poliomyelitis. Lancet. 1912;180(4637):80-81. https://doi.org/10.1016/S0140-6736(01)41234-7
22. Batten FE, Still GF. Epidemic stupor in children. Lancet. 1918;191(4940):636-7. https://doi.org/10.1016/S0140-6736(01)26258-8
23. Higgins TT, Batten FE. Dev Med Child Neur 1962;4(Suppl. 5):1-29.