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Friedreich's ataxia
322
The Journal of P E D I A T R I C S
Correspondence
Friedreich 's ataxia
To the Editor: One of my oldest pediatric p a t i e n t s - - i n fact, at the present he is 50 years of age---has had progressive cerebral degeneration or Friedreich's ataxia. I have asked him to write his own case history, which follows. I first saw this patient in 1927, and have followed his progress ever since. His description of the sequence of signs is clearer than that of any textbook and should be helpful in the diagnosis of other patients: When I was born in Raleigh, North Carolina, on January 21, 1911, I was such a frail, delicate baby that many people predicted I would never reach maturity. As I grew older, I remained underweight and susceptible to illnesses. My movements were awkward and slow; I was not able to stand or sit with my spine in a straight llne; and I failed to walk at the expected age. Numerous physicians were consulted, and a diagnosis of rickets was made. Large quantities of cod liver oil, yeast, milk, and green vegetables, however, produced no improvement in my condition. When I began to walk, my gait was uncertain and unsteady, and I was never able to walk in a straight line. My right knee buckled inward at irregular intervals, causing my right foot to follow an erratic course. (Among my childhood nicknames were "Wobbler" and "Twitchy.") I soon learned to correct or improve some of my inabilities to function by the technique of diadochokinesia. Although my instep was unusually high, making my feet difficult to fit, I had to wear shoes at all times; contact of my instep with any sharp or rough object would start a reaction which caused my biceps to contract, resulting in a fall. Several times as a child I fell into water while wading. I was never able to stand with my feet together and my eyes closed, or to watch a moving object overhead without some stationary support. Because I was dependent on sight for almost every action, a diagnosis of Charcot's hereditary atrophy was considered. The diagnosis of Friedreich's ataxia, or spinocerebellar degeneration, was not made until I was past 40. Among the fieurologic deficits described by Saunders 1 as being typical of this disease were "Slight tactile loss over the distal parts of the
upper and lower extremities with preservation of the cutaneous sensibility to pain, temperature and pressure touch; gross loss of the sense of position and of the recognition of passive movement, in the distal joints especially, in all the limbs, and severe disturbance of the appreciation of vibration and of the power of recognizing simultaneous contacts on the distal parts of the upper and lower extremities; with some defect or even marked loss in the recognition of form, shape, size, and weight in both hands." This description is applicable to my case. My tendon jerks have always been absent. Occasionally I have a prickling sensation in either leg, followed by spastic motion of that leg. If I touch something very hot or very cold, violent spastic motion of all my reflexes results. At irregular intervals, painful spasm of either or both biceps muscles occurs, often lasting until I am able to fall asleep. As a child, I was often awakened with cramps in my feet and lower leg muscles, but these have not occurred in recent years. When I reached adult life, my toes retracted into the typical "hammer toe" shape. I wear shoes with a blucher cut (because of the pes cavus) and a moccasin-style toe, and buy them one and a half sizes too long. The scoliosis increased as I grew older, and in adult life kyphosis also became evident. In 1948 I visited the Institute of Rehabilitation and Physical Medicine in New York for muscle training. Because of the breathing and speech difficulties resulting, in part, from the kyphoscoliosis, I was advised to breathe with my diaphragm. My speech difficulty is variable, being much more pronounced on some days than on others. Coordination between ears and eyes is impaired only when I am outdoors and near a large object; then I am unable to locate the source of a distant sound. Although my distant vision is excellent, I wear trifocal lenses because of difficulty in seeing objects at any range up to 10 feet. Nystagmus of brief duration is present when I attempt to write in longhand or when "i move my eyes from one object to another (as when I am copying something on the typewriter). I also have diplopia. My eyes, particularly the right eye, are easily irritated by direct light, wind, or lacrimation. To protect them, I wear small leather patches on m y temple shafts; outdoors, I wear a dark-colored shield on my glasses both day and night.
Volume 61
Number 2
A dermatitis of the head and face is also aggravated by sunlight, as well as by perspiration and continued pressure, no matter how slight. For this reason, I keep m y hair short and wear an elastic cord, attached to the earpieces of m y glasses, across the top of m y head. Electrocardiograms have always shown cardiac irregularity, and at times I am aware of rapid heart action. Increasing abdominal enlargement, which began ten or fifteen years ago, has forced me to wear trousers with an elastic band instead of a belt. Several years ago diabetes mellitus was recognized, and treatment of this condition has improved m y general health. Unless I am ill, I have control of m y bladder and bowels, although I sometimes pass gas by rectum without being aware of it. Because of the atrophy of the genitalia, I am unable to wear a urinal. Sterility is present. For a year I have been troubled with chronic urethritis, scrotal formica-
Correspondence
323
tion, and ruptures of some of the smaller blood vessels under the glans penis. I believe that I also have pyelonephritis. Since 1955, I have frequently been aware of a feeling of heat, not accompanied by sweating or fever. T h o u g h my body feels hot to the touch during these episodes, my temperature has always been normal. I sleep poorly, and a m often troubled by backache. Although my wife's care has kept me from becoming bedfast, I am now confined to a wheelchair. W. C. DAVISON~ M.D.
REFERENCE
1. Saunders, P. W.: Sensory changes in Friedreich's disease, Brain 36: 166, 1913; quoted by Greenfield, J. G.: The spino-cerebellar degenerations, Springfield, Ill., 1954, Charles C Thomas, Publisher.
Neurogenic tumors
To the Editor: I was very m u c h interested in the recent report by Kogut a n d K a p l a n (J. PEDIAT. 60: 694, 1962) reviewing the association of neurogenic tumors a n d " a d r e n e r g i c " signs and symptoms. W e have recently h a d the opportunity to study a l~2-year-old boy w i t h diarrhea, flushing, increased catecholamine excretion, and an adrenal ganglioneuroma. Biochemical a n d histochemical studies of the t u m o r are now being carried out a n d will be reported at a later date. Interestingly, in 1932, Bigler and H o y n O described a 4 ~ - y e a r - o t d boy with celiac disease and idiocy who on p o s t m o r t e m e x a m i n a t i o n was found to have a g a n g l i o n e u r o m a at the upper pole of the right kidney. T h e y m a d e the perhaps u n p r o p h e t i c s t a t e m e n t that, " T h e history and clinical course of the iilness can be omitted, because they have no bearing on the ganglioneuroma, w h i c h was a chance observation at necropsy." Also, in 1952, Brown 2 described a 3-monthold male with uncontrolled d i a r r h e a a n d a right u p p e r q u a d r a n t mass. I n this case there was no definite histologic diagnosis. More recently, Kaser a n d v o n Studnitz, 3 Voorhess and G a r d n e r , 4 a n d Smellie a n d Sandler 5 have reported cases of d i a r r h e a in association with neurogenlc tumors.
These patients all showed elevated vanillylmandelic acid ( V M A ) in the urine. Several recent reports arc p e r t i n e n t to the frequency with which neurogenic tumors secrete catecholamines. Voorhess and G a r d n e r 4 found elevated catecholamines in the urine of 13 of 17 children with neurogenic tumors. V o n Studnitz 6 studied 25 patients with neuroblastomas a n d found elevated V M A excretion in 24. BERYL J O E L ROSENSTEIN~ M.D. HARRIET L A N E H O M E
REFERENCES 1. Bigler, J., and Hoyne, A.: Ganglioneuroma, Am. J. Dis. Child. 43: 1552, 1932. 2. Brown, Edward E.: Adrenal neuroblastoma, Arch. Pedlar. 69: 397, 1952. 3. Kaser, H., and yon Studnitz, W.: Urine of children with sympathetic tumors, A. M. A. J. Dis. Child. 102: 199, 1961. 4. Voorhess, M. L., and Gardner, L. I.: Studies of catecholamine excretion by children with neural tumors, J. Clin. Endocrinol. 22: 126, 1962. 5. Smellie, J. M., and Sandier, M.: Secreting intrathoracic ganglioneuroma, Proc. Roy. Soc. Med. 54: 327, 1961. 6. Von Studnitz, W.: Neuroblastoma and catecholamine excretion, Lancet 2: 215, 1961 (correspondence).
The Journal of P E D I A T R I C S
Correspondence
Friedreich 's ataxia
To the Editor: One of my oldest pediatric p a t i e n t s - - i n fact, at the present he is 50 years of age---has had progressive cerebral degeneration or Friedreich's ataxia. I have asked him to write his own case history, which follows. I first saw this patient in 1927, and have followed his progress ever since. His description of the sequence of signs is clearer than that of any textbook and should be helpful in the diagnosis of other patients: When I was born in Raleigh, North Carolina, on January 21, 1911, I was such a frail, delicate baby that many people predicted I would never reach maturity. As I grew older, I remained underweight and susceptible to illnesses. My movements were awkward and slow; I was not able to stand or sit with my spine in a straight llne; and I failed to walk at the expected age. Numerous physicians were consulted, and a diagnosis of rickets was made. Large quantities of cod liver oil, yeast, milk, and green vegetables, however, produced no improvement in my condition. When I began to walk, my gait was uncertain and unsteady, and I was never able to walk in a straight line. My right knee buckled inward at irregular intervals, causing my right foot to follow an erratic course. (Among my childhood nicknames were "Wobbler" and "Twitchy.") I soon learned to correct or improve some of my inabilities to function by the technique of diadochokinesia. Although my instep was unusually high, making my feet difficult to fit, I had to wear shoes at all times; contact of my instep with any sharp or rough object would start a reaction which caused my biceps to contract, resulting in a fall. Several times as a child I fell into water while wading. I was never able to stand with my feet together and my eyes closed, or to watch a moving object overhead without some stationary support. Because I was dependent on sight for almost every action, a diagnosis of Charcot's hereditary atrophy was considered. The diagnosis of Friedreich's ataxia, or spinocerebellar degeneration, was not made until I was past 40. Among the fieurologic deficits described by Saunders 1 as being typical of this disease were "Slight tactile loss over the distal parts of the
upper and lower extremities with preservation of the cutaneous sensibility to pain, temperature and pressure touch; gross loss of the sense of position and of the recognition of passive movement, in the distal joints especially, in all the limbs, and severe disturbance of the appreciation of vibration and of the power of recognizing simultaneous contacts on the distal parts of the upper and lower extremities; with some defect or even marked loss in the recognition of form, shape, size, and weight in both hands." This description is applicable to my case. My tendon jerks have always been absent. Occasionally I have a prickling sensation in either leg, followed by spastic motion of that leg. If I touch something very hot or very cold, violent spastic motion of all my reflexes results. At irregular intervals, painful spasm of either or both biceps muscles occurs, often lasting until I am able to fall asleep. As a child, I was often awakened with cramps in my feet and lower leg muscles, but these have not occurred in recent years. When I reached adult life, my toes retracted into the typical "hammer toe" shape. I wear shoes with a blucher cut (because of the pes cavus) and a moccasin-style toe, and buy them one and a half sizes too long. The scoliosis increased as I grew older, and in adult life kyphosis also became evident. In 1948 I visited the Institute of Rehabilitation and Physical Medicine in New York for muscle training. Because of the breathing and speech difficulties resulting, in part, from the kyphoscoliosis, I was advised to breathe with my diaphragm. My speech difficulty is variable, being much more pronounced on some days than on others. Coordination between ears and eyes is impaired only when I am outdoors and near a large object; then I am unable to locate the source of a distant sound. Although my distant vision is excellent, I wear trifocal lenses because of difficulty in seeing objects at any range up to 10 feet. Nystagmus of brief duration is present when I attempt to write in longhand or when "i move my eyes from one object to another (as when I am copying something on the typewriter). I also have diplopia. My eyes, particularly the right eye, are easily irritated by direct light, wind, or lacrimation. To protect them, I wear small leather patches on m y temple shafts; outdoors, I wear a dark-colored shield on my glasses both day and night.
Volume 61
Number 2
A dermatitis of the head and face is also aggravated by sunlight, as well as by perspiration and continued pressure, no matter how slight. For this reason, I keep m y hair short and wear an elastic cord, attached to the earpieces of m y glasses, across the top of m y head. Electrocardiograms have always shown cardiac irregularity, and at times I am aware of rapid heart action. Increasing abdominal enlargement, which began ten or fifteen years ago, has forced me to wear trousers with an elastic band instead of a belt. Several years ago diabetes mellitus was recognized, and treatment of this condition has improved m y general health. Unless I am ill, I have control of m y bladder and bowels, although I sometimes pass gas by rectum without being aware of it. Because of the atrophy of the genitalia, I am unable to wear a urinal. Sterility is present. For a year I have been troubled with chronic urethritis, scrotal formica-
Correspondence
323
tion, and ruptures of some of the smaller blood vessels under the glans penis. I believe that I also have pyelonephritis. Since 1955, I have frequently been aware of a feeling of heat, not accompanied by sweating or fever. T h o u g h my body feels hot to the touch during these episodes, my temperature has always been normal. I sleep poorly, and a m often troubled by backache. Although my wife's care has kept me from becoming bedfast, I am now confined to a wheelchair. W. C. DAVISON~ M.D.
REFERENCE
1. Saunders, P. W.: Sensory changes in Friedreich's disease, Brain 36: 166, 1913; quoted by Greenfield, J. G.: The spino-cerebellar degenerations, Springfield, Ill., 1954, Charles C Thomas, Publisher.
Neurogenic tumors
To the Editor: I was very m u c h interested in the recent report by Kogut a n d K a p l a n (J. PEDIAT. 60: 694, 1962) reviewing the association of neurogenic tumors a n d " a d r e n e r g i c " signs and symptoms. W e have recently h a d the opportunity to study a l~2-year-old boy w i t h diarrhea, flushing, increased catecholamine excretion, and an adrenal ganglioneuroma. Biochemical a n d histochemical studies of the t u m o r are now being carried out a n d will be reported at a later date. Interestingly, in 1932, Bigler and H o y n O described a 4 ~ - y e a r - o t d boy with celiac disease and idiocy who on p o s t m o r t e m e x a m i n a t i o n was found to have a g a n g l i o n e u r o m a at the upper pole of the right kidney. T h e y m a d e the perhaps u n p r o p h e t i c s t a t e m e n t that, " T h e history and clinical course of the iilness can be omitted, because they have no bearing on the ganglioneuroma, w h i c h was a chance observation at necropsy." Also, in 1952, Brown 2 described a 3-monthold male with uncontrolled d i a r r h e a a n d a right u p p e r q u a d r a n t mass. I n this case there was no definite histologic diagnosis. More recently, Kaser a n d v o n Studnitz, 3 Voorhess and G a r d n e r , 4 a n d Smellie a n d Sandler 5 have reported cases of d i a r r h e a in association with neurogenlc tumors.
These patients all showed elevated vanillylmandelic acid ( V M A ) in the urine. Several recent reports arc p e r t i n e n t to the frequency with which neurogenic tumors secrete catecholamines. Voorhess and G a r d n e r 4 found elevated catecholamines in the urine of 13 of 17 children with neurogenic tumors. V o n Studnitz 6 studied 25 patients with neuroblastomas a n d found elevated V M A excretion in 24. BERYL J O E L ROSENSTEIN~ M.D. HARRIET L A N E H O M E
REFERENCES 1. Bigler, J., and Hoyne, A.: Ganglioneuroma, Am. J. Dis. Child. 43: 1552, 1932. 2. Brown, Edward E.: Adrenal neuroblastoma, Arch. Pedlar. 69: 397, 1952. 3. Kaser, H., and yon Studnitz, W.: Urine of children with sympathetic tumors, A. M. A. J. Dis. Child. 102: 199, 1961. 4. Voorhess, M. L., and Gardner, L. I.: Studies of catecholamine excretion by children with neural tumors, J. Clin. Endocrinol. 22: 126, 1962. 5. Smellie, J. M., and Sandier, M.: Secreting intrathoracic ganglioneuroma, Proc. Roy. Soc. Med. 54: 327, 1961. 6. Von Studnitz, W.: Neuroblastoma and catecholamine excretion, Lancet 2: 215, 1961 (correspondence).